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Table 3 Causative variants identified in the high-risk healthy people

From: Clinical and genetic characterization of hereditary breast cancer in a Chinese population

NO.

Year

Gene

Function area

Nucleotide change

AA change

Hom/Het

1000G_ALL

Variant

Annotation

ACMG evidence

SZ010

52

ATM

CDS30

c.4630_4633delTACT

p.Y1544*fsX1

Het

0

frameshift deletion

likely pathogenic

PVS1, PM2

SZ011

57

ATM

CDS30

c.4630_4633delTACT

p.Y1544*fsX1

Het

0

frameshift deletion

likely pathogenic

PVS1, PM2

SZ012

42

BRIP1

CDS9

c.1400delT

p.Ile467AsnfsX9

Het

0

frameshift deletion

likely pathogenic

PVS1, PM2

15B0028764

38

ATM

Exon38

c.5780delT

p.I1927IfsX10

Het

0

frameshift deletion

likely pathogenic

PVS1, PM2

15B0029343

33

BRCA2

CDS21

c.8946_8947delAG

p.K2982KfsX35

Het

0

frameshift deletion

likely pathogenic

PVS1, PM2

15B0027543

28

MUTYH

Intron10

c.892-2A > G

–

Het

0.0277

splicing

likely pathogenic

PVS1, PP5

15B0029366

33

BRCA2

CDS10

c.5344_5345insA

p.Q1782QfsX5

Het

0

frameshift deletion

likely pathogenic

PVS1, PM2

15B0029289

30

BARD1

CDS9

c.1822_1823insT

p.V608VfsX5

Het

0

frameshift deletion

likely pathogenic

PVS1, PM2

15B0027981

61

MUTYH

Intron10

c.892-2A > G

–

Het

0.0277

splicing

likely pathogenic

PVS1, PP5

15B0027558

39

MUTYH

CDS10

c.757C > T

p.Q253X

Het

0

nonsense mutation

pathogenic

PVS1,PM2, PP5

15B0027540

30

MUTYH

Intron10

c.892-2A > G

–

Het

0.0277

splicing

likely pathogenic

PVS1, PP5

15B0027538

35

MUTYH

Intron10

c.892-2A > G

–

Het

0.0277

splicing

likely pathogenic

PVS1, PP5

15B0027537

37

MUTYH

Intron10

c.892-2A > G

–

Het

0.0277

splicing

likely pathogenic

PVS1, PP5

15B0027970

18

MUTYH

Intron12

c.1144 + 2 T > C

–

Het

0

splicing

likely pathogenic

PVS1, PM2