12-55703158-T-G

Variant summary

Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3

The NM_002206.3(ITGA7):​c.227A>C​(p.Gln76Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 33)

Consequence

ITGA7
NM_002206.3 missense

Scores

4
10
5

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.284
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]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 3 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
PP3
MetaRNN computational evidence supports a deleterious effect, 0.757

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
ITGA7NM_002206.3 linkc.227A>C p.Gln76Pro missense_variant Exon 2 of 25 ENST00000257879.11 NP_002197.2 Q13683-7Q4LE35

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ITGA7ENST00000257879.11 linkc.227A>C p.Gln76Pro missense_variant Exon 2 of 25 1 NM_002206.3 ENSP00000257879.7 Q13683-7

Frequencies

GnomAD3 genomes
Cov.:
33
GnomAD4 exome
Cov.:
37
GnomAD4 genome
Cov.:
33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
0.69
BayesDel_addAF
Pathogenic
0.19
D
BayesDel_noAF
Uncertain
0.040
CADD
Uncertain
24
DANN
Uncertain
0.99
DEOGEN2
Benign
0.13
.;.;T;D
Eigen
Benign
-0.085
Eigen_PC
Benign
0.024
FATHMM_MKL
Pathogenic
0.97
D
LIST_S2
Benign
0.86
D;D;D;D
M_CAP
Uncertain
0.12
D
MetaRNN
Pathogenic
0.76
D;D;D;D
MetaSVM
Uncertain
-0.13
T
MutationAssessor
Uncertain
2.4
M;M;.;M
PrimateAI
Uncertain
0.59
T
PROVEAN
Uncertain
-3.7
D;D;D;D
REVEL
Uncertain
0.59
Sift
Uncertain
0.0030
D;D;D;D
Sift4G
Uncertain
0.015
D;D;D;D
Polyphen
0.011
B;.;.;.
Vest4
0.72
MutPred
0.56
Gain of glycosylation at Q76 (P = 0.0075);Gain of glycosylation at Q76 (P = 0.0075);Gain of glycosylation at Q76 (P = 0.0075);Gain of glycosylation at Q76 (P = 0.0075);
MVP
0.93
MPC
0.22
ClinPred
0.98
D
GERP RS
4.5
Varity_R
0.85
gMVP
0.94

Splicing

Name
Calibrated prediction
Score
Prediction
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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs767427150; hg19: chr12-56096942; API