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NM_005215.4(DCC):c.2455G>A (p.Asp819Asn) AND Amenorrhea

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 8, 2021
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:
RCV001849763.1

Allele description [Variation Report for NM_005215.4(DCC):c.2455G>A (p.Asp819Asn)]

NM_005215.4(DCC):c.2455G>A (p.Asp819Asn)

Gene:
DCC:DCC netrin 1 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005215.4(DCC):c.2455G>A (p.Asp819Asn)
HGVS:
  • NC_000018.10:g.53386138G>A
  • NG_013341.2:g.1050967G>A
  • NM_005215.4:c.2455G>AMANE SELECT
  • NP_005206.2:p.Asp819Asn
  • LRG_1107t1:c.2455G>A
  • LRG_1107:g.1050967G>A
  • LRG_1107p1:p.Asp819Asn
  • NC_000018.9:g.50912508G>A
Protein change:
D819N
Links:
dbSNP: rs181197485
NCBI 1000 Genomes Browser:
rs181197485
Molecular consequence:
  • NM_005215.4:c.2455G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Amenorrhea
Identifiers:
MONDO: MONDO:0001836; MedGen: C0002453; Human Phenotype Ontology: HP:0000141

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106797Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Uncertain significance
(Mar 8, 2021) 		unknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.

Delaney A, Burkholder AB, Lavender CA, Plummer L, Mericq V, Merino PM, Quinton R, Lewis KL, Meader BN, Albano A, Shaw ND, Welt CK, Martin KA, Seminara SB, Biesecker LG, Bailey-Wilson JE, Hall JE.

J Clin Endocrinol Metab. 2021 Mar 8;106(3):e1441-e1452. doi: 10.1210/clinem/dgaa609.

PubMed [citation]
PMID:
32870266
PMCID:
PMC7947783

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106797.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023