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NM_004531.5(MOCS2):c.346_349del (p.Val116fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 12, 2023
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:
RCV003546452.2

Allele description [Variation Report for NM_004531.5(MOCS2):c.346_349del (p.Val116fs)]

NM_004531.5(MOCS2):c.346_349del (p.Val116fs)

Gene:
MOCS2:molybdenum cofactor synthesis 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q11.2
Genomic location:
Preferred name:
NM_004531.5(MOCS2):c.346_349del (p.Val116fs)
HGVS:
  • NC_000005.10:g.53101389_53101392del
  • NG_008435.2:g.13379_13382del
  • NM_004531.5:c.346_349delMANE SELECT
  • NM_176806.4:c.*266_*269del
  • NP_004522.1:p.Val116fs
  • NC_000005.9:g.52397217_52397220del
  • NC_000005.9:g.52397219_52397222del
  • NM_176806.3:c.*266_*269delGTCA
Protein change:
V116fs
Links:
OMIM: 603708.0003; dbSNP: rs398122798
NCBI 1000 Genomes Browser:
rs398122798
Molecular consequence:
  • NM_176806.4:c.*266_*269del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004531.5:c.346_349del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004274774Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 12, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

Reiss J, Hahnewald R.

Hum Mutat. 2011 Jan;32(1):10-8. doi: 10.1002/humu.21390. Review.

PubMed [citation]
PMID:
21031595

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.

Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT.

Am J Hum Genet. 1999 Mar;64(3):706-11.

PubMed [citation]
PMID:
10053004
PMCID:
PMC1377787
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004274774.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Val116Asnfs*3) in the MOCS2B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MOCS2B are known to be pathogenic (PMID: 21031595). This variant is present in population databases (rs398122798, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with molybdenum cofactor deficiency (PMID: 10053004). This variant is also known as 533del4. ClinVar contains an entry for this variant (Variation ID: 6110). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024