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NM_000208.4(INSR):c.3164C>T (p.Ala1055Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 11, 2020)
Last evaluated:
Aug 28, 2019
Accession:
VCV000812074.3
Variation ID:
812074
Description:
single nucleotide variant
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NM_000208.4(INSR):c.3164C>T (p.Ala1055Val)

Allele ID
800159
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7125377 (GRCh38) GRCh38 UCSC
19: 7125388 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7125377G>A
NC_000019.9:g.7125388G>A
NG_008852.2:g.173624C>T
... more HGVS
Protein change
A1043V, A1055V
Other names
-
Canonical SPDI
NC_000019.10:7125376:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1599874183
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 28, 2019 RCV001002665.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
INSR - - GRCh38
GRCh37
496 509

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 28, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001160653.2
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The INSR c.3164C>T; p.Ala1055Val variant, also known in alternative nomenclature as p.Ala1028Val, is reported in the literature in several individuals affected with type A insulin … (more)

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.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1599874183...

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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 11, 2021