NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) AND Oculodentodigital dysplasia, autosomal recessive

Clinical significance:Likely benign (Last evaluated: Dec 31, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001089368.1

Allele description [Variation Report for NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)]

NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)

Gene:
GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)
HGVS:
  • NC_000006.12:g.121447932G>A
  • NG_008308.1:g.17334G>A
  • NM_000165.5:c.1085G>AMANE SELECT
  • NP_000156.1:p.Arg362Gln
  • LRG_1289t1:c.1085G>A
  • LRG_1289:g.17334G>A
  • LRG_1289p1:p.Arg362Gln
  • NC_000006.11:g.121769078G>A
  • NM_000165.3:c.1085G>A
  • NM_000165.4:c.1085G>A
  • P17302:p.Arg362Gln
Protein change:
R362Q; ARG362GLN
Links:
UniProtKB: P17302#VAR_032924; OMIM: 121014.0011; dbSNP: rs2227885
NCBI 1000 Genomes Browser:
rs2227885
Molecular consequence:
  • NM_000165.5:c.1085G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Oculodentodigital dysplasia, autosomal recessive
Synonyms:
OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE; ODDD, AUTOSOMAL RECESSIVE; ODOD, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0009768; MedGen: C2749477; Orphanet: 2710; OMIM: 257850

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001002194Invitaecriteria provided, single submitter
Likely benign
(Dec 31, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001002194.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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