NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 28, 2013
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:: RCV000151016.4

Allele description [Variation Report for NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met)]

NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met)

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.1059A>G (p.Ile353Met)

HGVS:

NC_000005.10:g.69420444A>G
NG_017201.2:g.10333A>G
NM_001038603.3:c.1059A>GMANE SELECT
NM_001244734.2:c.1059A>G
NP_001033692.2:p.Ile353Met
NP_001231663.1:p.Ile353Met
LRG_1380t1:c.1059A>G
LRG_1380:g.10333A>G
LRG_1380p1:p.Ile353Met
NC_000005.9:g.68716271A>G
NG_017201.1:g.10333A>G
NM_001038603.2:c.1059A>G

Protein change:

I353M

Links:

dbSNP: rs727503158

NCBI 1000 Genomes Browser:

rs727503158

Molecular consequence:

NM_001038603.3:c.1059A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001244734.2:c.1059A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000198734	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Jun 28, 2013)	germline	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

SCV000198734

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Jun 28, 2013)

germline

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	germline	not provided	1	1	not provided	not provided	not provided	clinical 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, SCV000198734.4

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

Description

Ile353Met in exon 2 of MARVELD2: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, horse, pika, and tarsier have a methionine (Met) at this position despite high nearby amino acid conservation. In addition, computational analyses (PolyPh en2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein.

#	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		1	not provided	1	not provided

Last Updated: Oct 26, 2024

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