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NM_006988.5(ADAMTS1):c.403T>G (p.Ser135Ala) AND Nonsyndromic hearing impairment

Germline classification:
Uncertain significance (1 submission)
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:
RCV001543103.1

Allele description [Variation Report for NM_006988.5(ADAMTS1):c.403T>G (p.Ser135Ala)]

NM_006988.5(ADAMTS1):c.403T>G (p.Ser135Ala)

Gene:
ADAMTS1:ADAM metallopeptidase with thrombospondin type 1 motif 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q21.3
Genomic location:
Preferred name:
NM_006988.5(ADAMTS1):c.403T>G (p.Ser135Ala)
HGVS:
  • NC_000021.9:g.26844552A>C
  • NM_006988.5:c.403T>GMANE SELECT
  • NP_008919.3:p.Ser135Ala
  • NC_000021.8:g.28216871A>C
Protein change:
S135A
Links:
dbSNP: rs574673251
NCBI 1000 Genomes Browser:
rs574673251
Molecular consequence:
  • NM_006988.5:c.403T>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
unknown functional consequence
Observations:
1

Condition(s)

Name:
Nonsyndromic hearing impairment
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001478241Center for Statistical Genetics, Columbia University
no assertion criteria provided
Uncertain significanceinheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South Asianinheritedyes31not providednot providednot providedclinical testing

Details of each submission

From Center for Statistical Genetics, Columbia University, SCV001478241.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South Asian3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not provided1not provided

Last Updated: Dec 24, 2023