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NM_021783.5(EDA2R):c.22T>C (p.Tyr8His) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 31, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000948158.4

Allele description

NM_021783.5(EDA2R):c.22T>C (p.Tyr8His)

Gene:
EDA2R:ectodysplasin A2 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_021783.5(EDA2R):c.22T>C (p.Tyr8His)
HGVS:
  • NC_000023.11:g.66615999A>G
  • NG_013271.2:g.28268T>C
  • NM_001199687.3:c.22T>C
  • NM_001242310.1:c.22T>C
  • NM_001324199.2:c.6T>C
  • NM_001324201.2:c.6T>C
  • NM_001324202.2:c.6T>C
  • NM_001324204.2:c.-11T>C
  • NM_001324205.2:c.-11T>C
  • NM_001324206.2:c.22T>C
  • NM_021783.5:c.22T>CMANE SELECT
  • NP_001186616.2:p.Tyr8His
  • NP_001229239.1:p.Tyr8His
  • NP_001311128.2:p.Ser2=
  • NP_001311130.2:p.Ser2=
  • NP_001311131.2:p.Ser2=
  • NP_001311135.2:p.Tyr8His
  • NP_068555.2:p.Tyr8His
  • NC_000023.10:g.65835841A>G
  • NM_021783.4:c.22T>C
  • NR_136726.2:n.101T>C
  • NR_136727.2:n.116T>C
Protein change:
Y8H
Links:
dbSNP: rs73221529
NCBI 1000 Genomes Browser:
rs73221529
Molecular consequence:
  • NM_001324204.2:c.-11T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001324205.2:c.-11T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001199687.3:c.22T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242310.1:c.22T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324206.2:c.22T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021783.5:c.22T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136726.2:n.101T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136727.2:n.116T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001324199.2:c.6T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001324201.2:c.6T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001324202.2:c.6T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001094355Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001094355.2

#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: Dec 24, 2023