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NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 16, 2017
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:
RCV000613003.4

Allele description [Variation Report for NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=)]

NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=)

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.1248A>C (p.Thr416=)
HGVS:
  • NC_000005.10:g.69432592A>C
  • NG_017201.2:g.22481A>C
  • NM_001038603.3:c.1248A>CMANE SELECT
  • NM_001244734.2:c.1212A>C
  • NP_001033692.2:p.Thr416=
  • NP_001231663.1:p.Thr404=
  • LRG_1380t1:c.1248A>C
  • LRG_1380:g.22481A>C
  • LRG_1380p1:p.Thr416=
  • NC_000005.9:g.68728419A>C
  • NG_017201.1:g.22481A>C
  • NM_001038603.2:c.1248A>C
  • p.Thr416Thr
Links:
dbSNP: rs146746360
NCBI 1000 Genomes Browser:
rs146746360
Molecular consequence:
  • NM_001038603.3:c.1248A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001244734.2:c.1212A>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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
SCV000711101Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Mar 16, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000711101.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Thr416Thr in Exon 04 of MARVELD2: This variant is not expected to have clinica l significance because it does not alter an amino acid residue, is not located w ithin the splice consensus sequence, and has been identified in 0.6% (38/6612) o f Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNPrs146746360) and 0.7% (182/25794) of Finnish chromosomes i ncluding 2 homozygotes by the Genome Aggregation Database (gnomAD, http://gnomAD .broadinstitute.org; dbSNPrs146746360).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Feb 20, 2024