NM_006261.5(PROP1):c.425C>T (p.Ala142Val) 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:: RCV001849329.1

Allele description [Variation Report for NM_006261.5(PROP1):c.425C>T (p.Ala142Val)]

NM_006261.5(PROP1):c.425C>T (p.Ala142Val)

Gene:

PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_006261.5(PROP1):c.425C>T (p.Ala142Val)

HGVS:

NC_000005.10:g.177992965G>A
NG_015889.1:g.8278C>T
NM_006261.5:c.425C>TMANE SELECT
NP_006252.3:p.Ala142Val
NP_006252.4:p.Ala142Val
NC_000005.9:g.177419966G>A
NM_006261.4:c.425C>T

Protein change:

A142V

Links:

dbSNP: rs143790367

NCBI 1000 Genomes Browser:

rs143790367

Molecular consequence:

NM_006261.5:c.425C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002106773	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Uncertain significance (Mar 8, 2021)	unknown	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002106773

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Uncertain significance
(Mar 8, 2021)

unknown

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	literature 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, SCV002106773.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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