rs11171661

Variant names:

Variant summary

Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1

The NM_002206.3(ITGA7):c.415-10C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0849 in 1,613,994 control chromosomes in the GnomAD database, including 6,764 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.063 ( 444 hom., cov: 33)

Exomes 𝑓: 0.087 ( 6320 hom. )

Consequence

ITGA7
NM_002206.3 intron

Scores

Splicing: ADA: 0.00001970

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:8

Conservation

PhyloP100: -1.35

Publications

6 publications found

Variant links:

Genes affected

ITGA7 (HGNC:6143): (integrin subunit alpha 7) The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009]

ITGA7 Gene-Disease associations (from GenCC):

congenital muscular dystrophy due to integrin alpha-7 deficiency
Inheritance: AR Classification: STRONG, MODERATE, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), G2P, Orphanet
congenital fiber-type disproportion myopathy
Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet

ITGA7 links:

Genome browser will be placed here

new If you want to explore the variant's impact on the transcript NM_002206.3, check out the Mutation Effect Viewer. This is especially useful for frameshift variants or if you want to visualize the effect of exon loss / intron retention.

ACMG classification

Classification was made for transcript

Our verdict: Benign. The variant received -20 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.86).

BP6

Variant 12-55701164-G-A is Benign according to our data. Variant chr12-55701164-G-A is described in ClinVar as Benign. ClinVar VariationId is 94045.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

BA1

GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0995 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_002206.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Gene	Transcript	Tags	HGVSc	Effect	Exon Rank	Protein	UniProt
ITGA7	NM_002206.3	MANE Select	c.415-10C>T	intron	N/A	NP_002197.2	Q13683-7
ITGA7	NM_001410977.1		c.415-10C>T	intron	N/A	NP_001397906.1	Q13683-1
ITGA7	NM_001144996.2		c.415-10C>T	intron	N/A	NP_001138468.1	Q13683-3

Ensembl Transcripts

Gene	Transcript	Tags	HGVSc	Effect	Exon Rank	Protein	UniProt
ITGA7	ENST00000257879.11	TSL:1 MANE Select	c.415-10C>T	intron	N/A	ENSP00000257879.7	Q13683-7
ITGA7	ENST00000553804.6	TSL:1	c.415-10C>T	intron	N/A	ENSP00000452120.1	Q13683-3
ITGA7	ENST00000555728.5	TSL:5	c.415-10C>T	intron	N/A	ENSP00000452387.1	Q13683-1

Frequencies

GnomAD3 genomes

AF:

0.0630

AC:

9593

AN:

152176

Hom.:

444

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0166

Gnomad AMI

AF:

0.0636

Gnomad AMR

AF:

0.0550

Gnomad ASJ

AF:

0.0496

Gnomad EAS

AF:

0.000577

Gnomad SAS

AF:

0.0134

Gnomad FIN

AF:

0.0655

Gnomad MID

AF:

0.0759

Gnomad NFE

AF:

0.102

Gnomad OTH

AF:

0.0684

GnomAD2 exomes

AF:

0.0627

AC:

15748

AN:

251000

AF XY:

0.0626

show subpopulations

Gnomad AFR exome

AF:

0.0168

Gnomad AMR exome

AF:

0.0386

Gnomad ASJ exome

AF:

0.0491

Gnomad EAS exome

AF:

0.000272

Gnomad FIN exome

AF:

0.0643

Gnomad NFE exome

AF:

0.0994

Gnomad OTH exome

AF:

0.0721

GnomAD4 exome

AF:

0.0872

AC:

127496

AN:

1461700

Hom.:

6320

Cov.:

AF XY:

0.0854

AC XY:

62102

AN XY:

727172

show subpopulations

African (AFR)

AF:

0.0132

AC:

442

AN:

33480

American (AMR)

AF:

0.0408

AC:

1824

AN:

44722

Ashkenazi Jewish (ASJ)

AF:

0.0493

AC:

1288

AN:

26136

East Asian (EAS)

AF:

0.000252

AC:

AN:

39700

South Asian (SAS)

AF:

0.0185

AC:

1596

AN:

86256

European-Finnish (FIN)

AF:

0.0700

AC:

3735

AN:

53354

Middle Eastern (MID)

AF:

0.0434

AC:

250

AN:

5766

European-Non Finnish (NFE)

AF:

0.102

AC:

113669

AN:

1111898

Other (OTH)

AF:

0.0775

AC:

4682

AN:

60388

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.469

Heterozygous variant carriers

6734

13467

20201

26934

33668

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Exome Het

Exome Hom

Variant carriers

4044

8088

12132

16176

20220

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

GnomAD4 genome

AF:

0.0629

AC:

9585

AN:

152294

Hom.:

444

Cov.:

AF XY:

0.0609

AC XY:

4534

AN XY:

74476

show subpopulations

African (AFR)

AF:

0.0166

AC:

688

AN:

41570

American (AMR)

AF:

0.0548

AC:

839

AN:

15298

Ashkenazi Jewish (ASJ)

AF:

0.0496

AC:

172

AN:

3466

East Asian (EAS)

AF:

0.000578

AC:

AN:

5188

South Asian (SAS)

AF:

0.0135

AC:

AN:

4830

European-Finnish (FIN)

AF:

0.0655

AC:

695

AN:

10618

Middle Eastern (MID)

AF:

0.0680

AC:

AN:

294

European-Non Finnish (NFE)

AF:

0.101

AC:

6902

AN:

68004

Other (OTH)

AF:

0.0676

AC:

143

AN:

2114

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.498

Heterozygous variant carriers

461

921

1382

1842

2303

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

114

228

342

456

570

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.0756

Hom.:

144

Bravo

AF:

0.0603

Asia WGS

AF:

0.0110

AC:

AN:

3478

ClinVar

ClinVar submissions

Significance:Benign

Revision:criteria provided, multiple submitters, no conflicts

View on ClinVar

Pathogenic

VUS

Benign

Condition

not specified (6)

Congenital muscular dystrophy due to integrin alpha-7 deficiency (1)

not provided (1)

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.86

CADD

Benign

2.3

(source)

DANN

Benign

0.84

PhyloP100

-1.4

Mutation Taster

=100/0

polymorphism (auto)

(source)

Splicing

Name

Calibrated prediction

Score

Prediction

dbscSNV1_ADA

Benign

0.000020

dbscSNV1_RF

Benign

0.0

SpliceAI score (max)

0.0

Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Variant Effect in Transcripts

RefSeq Transcripts

Ensembl Transcripts

Frequencies

Age Distribution

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over