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NM_002474.3(MYH11):c.379C>T (p.Pro127Ser)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 23, 2019)
Last evaluated:
Jan 17, 2019
Accession:
VCV000617478.2
Variation ID:
617478
Description:
single nucleotide variant
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NM_002474.3(MYH11):c.379C>T (p.Pro127Ser)

Allele ID
608840
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.11
Genomic location
16: 15823378 (GRCh38) GRCh38 UCSC
16: 15917235 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1401:g.38653C>T
LRG_1401t2:c.379C>T LRG_1401p2:p.Pro127Ser
LRG_1401t1:c.379C>T LRG_1401p1:p.Pro127Ser
... more HGVS
Protein change
P127S
Other names
-
Canonical SPDI
NC_000016.10:15823377:G:A
Functional consequence
effect on catalytic protein function [Variation Ontology VariO:0008]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1596904322
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 no assertion criteria provided Jan 17, 2019 RCV000787337.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYH11 No evidence available No evidence available GRCh38
GRCh38
GRCh37
1133 2305

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 17, 2019)
no assertion criteria provided
Method: clinical testing
Visceral myopathy
(Autosomal recessive inheritance)
Allele origin: germline
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf
Accession: SCV000864231.1
Submitted: (Jan 23, 2019)
Evidence details
Comment:
Pro127 of MHY11 is highly conserved and as a component of the purine binding loop (Asp126Pro127xxxxxxTyr134; PMID 15184651) it is directly involved in shaping the … (more)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
effect on catalytic protein function
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf
Accession: SCV000864231.1
Submitted: (Jan 23, 2019)
Evidence details

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 rs1596904322...

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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 Oct 24, 2021