NM_020547.3(AMHR2):c.1332_1358del (p.Gly445_Leu453del) AND Persistent mullerian duct syndrome, type II

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 15, 2009
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:: RCV000009159.2

Allele description [Variation Report for NM_020547.3(AMHR2):c.1332_1358del (p.Gly445_Leu453del)]

NM_020547.3(AMHR2):c.1332_1358del (p.Gly445_Leu453del)

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.1332_1358del (p.Gly445_Leu453del)

HGVS:

NC_000012.12:g.53430189_53430215del
NG_015981.1:g.11335_11361del
NM_001164690.2:c.1328_1354del
NM_001164691.2:c.1140+564_1140+590del
NM_020547.3:c.1332_1358delMANE SELECT
NP_001158162.1:p.Trp443_Ser451del
NP_065434.1:p.Gly445_Leu453del
NC_000012.11:g.53823971_53823997del
NC_000012.11:g.53823973_53823999del

Note:

NCBI staff provided an HGVS expression for allelic variant 600956.0002 from the sequence reported in Figure 3 of the paper by Imbeaud et al., 1996 (PubMed 8872466).

Links:

OMIM: 600956.0002; dbSNP: rs764761319

NCBI 1000 Genomes Browser:

rs764761319

Molecular consequence:

NM_001164690.2:c.1328_1354del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_020547.3:c.1332_1358del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001164691.2:c.1140+564_1140+590del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Persistent mullerian duct syndrome, type II
Identifiers:: MedGen: C3897940

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029376	OMIM	no assertion criteria provided	Pathogenic (Aug 15, 2009)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8872466, 19457927

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029376

OMIM

no assertion criteria provided

Pathogenic
(Aug 15, 2009)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome.

Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY.

Hum Mol Genet. 1996 Sep;5(9):1269-77.

PubMed [citation]

PMID:: 8872466

Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport.

Belville C, Maréchal JD, Pennetier S, Carmillo P, Masgrau L, Messika-Zeitoun L, Galey J, Machado G, Treton D, Gonzalès J, Picard JY, Josso N, Cate RL, di Clemente N.

Hum Mol Genet. 2009 Aug 15;18(16):3002-13. doi: 10.1093/hmg/ddp238. Epub 2009 May 20.

PubMed [citation]

PMID:: 19457927

Details of each submission

From OMIM, SCV000029376.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Imbeaud et al. (1996) detected a 27-bp deletion (6331_6357del) in exon 10 of the AMHR gene, on at least 1 allele in 10 of 16 patients studied with AMHR mutations. The deletion was homozygous in 4 patients and was coupled with missense mutations in 6 patients.

Belville et al. (2009) noted that the 6331_6357del is missing residues 444 to 452, which are located at the top of the C-lobe in the X region of the kinase domain. Molecular modeling predicted that the deletion should lead to a substantial conformational change in the AMHR2 fold, since the residues constitute part of the alpha-G helix and the loop that precedes it.

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

Last Updated: Sep 29, 2024

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