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NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000211211.6
Variation ID:
211211
Description:
single nucleotide variant
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NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val)

Allele ID
207981
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.2
Genomic location
12: 55693152 (GRCh38) GRCh38 UCSC
12: 56086936 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.56086936T>C
NC_000012.12:g.55693152T>C
NG_012343.1:g.24154A>G
... more HGVS
Protein change
I901V, I808V, I453V, I792V, I905V
Other names
-
Canonical SPDI
NC_000012.12:55693151:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00295
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00257
1000 Genomes Project 0.00280
Links
ClinGen: CA205510
dbSNP: rs113651939
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Oct 26, 2015 RCV000192591.5
Likely benign 1 criteria provided, single submitter Sep 18, 2017 RCV000513998.4
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV001085864.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ITGA7 - - GRCh38
GRCh37
513 523

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 14, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000247638.1
Submitted: (Sep 15, 2015)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000308752.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Sep 18, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000610574.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Oct 26, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336441.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
Allele origin: germline
Invitae
Accession: SCV000648324.5
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Text-mined citations for rs113651939...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021