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NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000477934.1

Allele description [Variation Report for NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly)]

NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly)

Gene:
ACTG1:actin gamma 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly)
HGVS:
  • NC_000017.11:g.81511469G>C
  • NG_011433.1:g.6333C>G
  • NM_001199954.3:c.521C>G
  • NM_001614.5:c.521C>GMANE SELECT
  • NP_001186883.1:p.Ala174Gly
  • NP_001605.1:p.Ala174Gly
  • NC_000017.10:g.79478495G>C
  • NM_001199954.1:c.521C>G
  • NM_001614.2:c.521C>G
  • NR_037688.3:n.593C>G
Protein change:
A174G
Links:
dbSNP: rs727504862
NCBI 1000 Genomes Browser:
rs727504862
Molecular consequence:
  • NM_001199954.3:c.521C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001614.5:c.521C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037688.3:n.593C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 20
Synonyms:
Deafness, autosomal dominant 20
Identifiers:
MONDO: MONDO:0011480; MedGen: C1858172; Orphanet: 90635; OMIM: 604717
Name:
Baraitser-winter syndrome 2
Identifiers:
MONDO: MONDO:0013812; MedGen: C3281235; Orphanet: 2995; OMIM: 614583

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536865Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq
no assertion criteria provided
Uncertain significance
(Apr 27, 2016) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2022