NM_001038603.3(MARVELD2):c.259A>T (p.Lys87Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 27, 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:: RCV001996585.4

Allele description [Variation Report for NM_001038603.3(MARVELD2):c.259A>T (p.Lys87Ter)]

NM_001038603.3(MARVELD2):c.259A>T (p.Lys87Ter)

Gene:

MARVELD2:MARVEL domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

Preferred name:

NM_001038603.3(MARVELD2):c.259A>T (p.Lys87Ter)

HGVS:

NC_000005.10:g.69419644A>T
NG_017201.2:g.9533A>T
NM_001038603.3:c.259A>TMANE SELECT
NM_001244734.2:c.259A>T
NP_001033692.2:p.Lys87Ter
NP_001231663.1:p.Lys87Ter
LRG_1380t1:c.259A>T
LRG_1380:g.9533A>T
LRG_1380p1:p.Lys87Ter
NC_000005.9:g.68715471A>T

Protein change:

K87*

Links:

dbSNP: rs776953681

NCBI 1000 Genomes Browser:

rs776953681

Molecular consequence:

NM_001038603.3:c.259A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001244734.2:c.259A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002224962	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 27, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17186462, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002224962

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 27, 2023)

germline

clinical testing

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

Citations

PubMed

Tricellulin is a tight-junction protein necessary for hearing.

Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB.

Am J Hum Genet. 2006 Dec;79(6):1040-51. Epub 2006 Oct 31.

PubMed [citation]

PMID:: 17186462
PMCID:: PMC1698716

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002224962.3

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

Description

This variant is present in population databases (rs776953681, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Lys87*) in the MARVELD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MARVELD2 are known to be pathogenic (PMID: 17186462). This variant has not been reported in the literature in individuals affected with MARVELD2-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1446607).

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

Last Updated: Sep 29, 2024

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