U.S. flag

An official website of the United States government

NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) AND not specified

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Jun 13, 2024
Review status:
no classifications from unflagged records
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:
RCV000230453.3

Allele description [Variation Report for NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)]

NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)

Gene:
LAMA2:laminin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
6q22.33
Genomic location:
Preferred name:
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
HGVS:
  • NC_000006.11:g.129573389_129573390del
  • NC_000006.12:g.129252244AG[2]
  • NG_008678.1:g.374104AG[2]
  • NM_000426.4:c.2049_2050delMANE SELECT
  • NM_001079823.2:c.2049_2050del
  • NP_000417.3:p.Arg683fs
  • NP_001073291.2:p.Arg683fs
  • LRG_409:g.374104AG[2]
  • NC_000006.11:g.129573389AG[2]
  • NC_000006.11:g.129573389_129573390del
  • NC_000006.11:g.129573389_129573390delAG
  • NC_000006.12:g.129252244_129252245delAG
  • NM_000426.3:c.2045_2046del
  • NM_000426.3:c.2049_2050delAG
  • NM_000426.4:c.2049_2050del
  • p.Arg683Serfs*21
Protein change:
R683fs
Links:
LOVD 3: LAMA2_000018; OMIM: 156225.0007; dbSNP: rs202247790
NCBI 1000 Genomes Browser:
rs202247790
Molecular consequence:
  • NM_000426.4:c.2049_2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079823.2:c.2049_2050del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PubMed [citation]
PMID:
27854218

Details of each submission

From Center for Genetic Medicine Research, Children's National Medical Center, SCV000265783.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000265783Center for Genetic Medicine Research, Children's National Medical Center
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(Punetha et al. (J Neuromuscul Dis. 2016))		Uncertain significance
(Dec 1, 2015) 		unknownresearch

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

Last Updated: Apr 20, 2025