NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) AND CHARGE association

Clinical significance:Benign (Last evaluated: Nov 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000634443.4

Allele description [Variation Report for NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)]

NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)

Gene:
SEMA3E:semaphorin 3E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.11
Genomic location:
Preferred name:
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)
HGVS:
  • NC_000007.14:g.83387038T>C
  • NG_021242.2:g.267126A>G
  • NM_001178129.2:c.1500A>G
  • NM_012431.3:c.1680A>GMANE SELECT
  • NP_001171600.1:p.Arg500=
  • NP_036563.1:p.Arg560=
  • LRG_1287t1:c.1680A>G
  • LRG_1287:g.267126A>G
  • LRG_1287p1:p.Arg560=
  • NC_000007.13:g.83016354T>C
  • NM_012431.2:c.1680A>G
Links:
dbSNP: rs186628513
NCBI 1000 Genomes Browser:
rs186628513
Molecular consequence:
  • NM_001178129.2:c.1500A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012431.3:c.1680A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
CHARGE association (CHARGE)
Synonyms:
CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES; CHARGE syndrome; Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008965; MedGen: C0265354; Orphanet: 138; OMIM: 214800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000755750Invitaecriteria provided, single submitter
Benign
(Nov 20, 2020)
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, SCV000755750.4

#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: Nov 27, 2021

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