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NM_020547.3(AMHR2):c.43del (p.Val15fs) AND Persistent Mullerian duct syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 11, 2020
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:
RCV001449739.5

Allele description [Variation Report for NM_020547.3(AMHR2):c.43del (p.Val15fs)]

NM_020547.3(AMHR2):c.43del (p.Val15fs)

Gene:
AMHR2:anti-Mullerian hormone receptor type 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_020547.3(AMHR2):c.43del (p.Val15fs)
HGVS:
  • NC_000012.12:g.53423977del
  • NG_015981.1:g.5123del
  • NM_001164690.2:c.43del
  • NM_001164691.2:c.43del
  • NM_020547.3:c.43delMANE SELECT
  • NP_001158162.1:p.Val15fs
  • NP_001158163.1:p.Val15fs
  • NP_065434.1:p.Val15fs
  • NC_000012.11:g.53817761del
  • NC_000012.11:g.53817761delG
Protein change:
V15fs
Links:
dbSNP: rs2136938115
NCBI 1000 Genomes Browser:
rs2136938115
Molecular consequence:
  • NM_001164690.2:c.43del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164691.2:c.43del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020547.3:c.43del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Persistent Mullerian duct syndrome (PMDS)
Synonyms:
PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; Female genital ducts in otherwise normal male; Persistent mullerian duct syndrome, types 1 and 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009857; MedGen: C1849930; Orphanet: 2856; OMIM: 261550

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001653010Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely pathogenic
(Jun 11, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV001653010.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Val15TrpfsX29 variant in AMHR2 has not been previously reported in individuals with persistent Müllerian duct syndrome and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 15 and leads to a premature termination codon 29 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the AMHR2 gene is an established disease mechanism in autosomal recessive persistent Müllerian duct syndrome. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive persistent Müllerian duct syndrome. ACMG/AMP Criteria applied: PVS1, PM2.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

Last Updated: Jun 23, 2024