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NM_000479.5(AMH):c.1393C>T (p.Arg465Cys) AND Genetic non-acquired premature ovarian failure

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 1, 2019
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:
RCV001663378.1

Allele description [Variation Report for NM_000479.5(AMH):c.1393C>T (p.Arg465Cys)]

NM_000479.5(AMH):c.1393C>T (p.Arg465Cys)

Gene:
AMH:anti-Mullerian hormone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000479.5(AMH):c.1393C>T (p.Arg465Cys)
HGVS:
  • NC_000019.10:g.2251667C>T
  • NG_012190.1:g.7554C>T
  • NG_032853.1:g.9757G>A
  • NM_000479.5:c.1393C>TMANE SELECT
  • NP_000470.3:p.Arg465Cys
  • NC_000019.9:g.2251666C>T
Protein change:
R465C
Links:
dbSNP: rs2145032534
NCBI 1000 Genomes Browser:
rs2145032534
Molecular consequence:
  • NM_000479.5:c.1393C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Genetic non-acquired premature ovarian failure
Identifiers:
MedGen: C5816691

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001877160Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University
no assertion criteria provided
Likely pathogenic
(Oct 1, 2019) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Details of each submission

From Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, SCV001877160.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023