NM_001013631.3(HNRNPCL1):c.764del (p.Asp255fs) AND Mayer-Rokitansky-Kuster-Hauser syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 12, 2016
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:: RCV000660410.5

Allele description [Variation Report for NM_001013631.3(HNRNPCL1):c.764del (p.Asp255fs)]

NM_001013631.3(HNRNPCL1):c.764del (p.Asp255fs)

Gene:

HNRNPCL1:heterogeneous nuclear ribonucleoprotein C like 1 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.21

Genomic location:

Preferred name:

NM_001013631.3(HNRNPCL1):c.764del (p.Asp255fs)

HGVS:

NC_000001.11:g.12847526del
NM_001013631.3:c.764delMANE SELECT
NP_001013653.1:p.Asp255fs
NP_001013653.1:p.Asp255fs
NC_000001.10:g.12907379del
NM_001013631.2:c.764del

Protein change:

D255fs

Links:

dbSNP: rs767679031

NCBI 1000 Genomes Browser:

rs767679031

Molecular consequence:

NM_001013631.3:c.764del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Mayer-Rokitansky-Kuster-Hauser syndrome (CAUV)
Synonyms:: CONGENITAL ABSENCE OF UTERUS AND VAGINA; MULLERIAN APLASIA/DYSGENESIS; Rokitansky sequence
Identifiers:: MONDO: MONDO:0017771; MedGen: C0431648; Orphanet: 247775; Orphanet: 3109

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000782496	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 12, 2016)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000782496

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 12, 2016)

maternal

clinical testing

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	maternal	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000782496.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jun 29, 2024

ClinVar

Relating variation to medicine