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NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 19, 2014
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:
RCV000156762.4

Allele description [Variation Report for NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val)]

NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val)

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.211A>G (p.Ile71Val)
HGVS:
  • NC_000005.10:g.69419596A>G
  • NG_017201.2:g.9485A>G
  • NM_001038603.3:c.211A>GMANE SELECT
  • NM_001244734.2:c.211A>G
  • NP_001033692.2:p.Ile71Val
  • NP_001231663.1:p.Ile71Val
  • LRG_1380t1:c.211A>G
  • LRG_1380:g.9485A>G
  • LRG_1380p1:p.Ile71Val
  • NC_000005.9:g.68715423A>G
  • NG_017201.1:g.9485A>G
  • NM_001038603.2:c.211A>G
Protein change:
I71V
Links:
dbSNP: rs150773481
NCBI 1000 Genomes Browser:
rs150773481
Molecular consequence:
  • NM_001038603.3:c.211A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001244734.2:c.211A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206483Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Aug 19, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, SCV000206483.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Ile71Val in exon 2 of MARVELD2: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, 22 mammals have a valine (Val) at this position despite high nearby amino a cid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein, and it has been identified in 3.6% (7/ 192) of Kenyan chromosomes by the 1000 Genomes Project (dbSNP rs150773481).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Sep 29, 2024