U.S. flag

An official website of the United States government

NM_006610.4(MASP2):c.1479C>T (p.Ser493=) AND Amyotrophic Lateral Sclerosis, Dominant

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000262387.6

Allele description [Variation Report for NM_006610.4(MASP2):c.1479C>T (p.Ser493=)]

NM_006610.4(MASP2):c.1479C>T (p.Ser493=)

Genes:
MASP2:MBL associated serine protease 2 [Gene - OMIM - HGNC]
TARDBP:TAR DNA binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_006610.4(MASP2):c.1479C>T (p.Ser493=)
HGVS:
  • NC_000001.11:g.11027467G>A
  • NG_007289.2:g.24762C>T
  • NG_008734.1:g.19846G>A
  • NM_006610.4:c.1479C>TMANE SELECT
  • NP_006601.2:p.Ser493=
  • LRG_82t1:c.1479C>T
  • LRG_659:g.19846G>A
  • LRG_82:g.24762C>T
  • LRG_82p1:p.Ser493=
  • NC_000001.10:g.11087524G>A
  • NM_006610.3:c.1479C>T
  • p.Ser493Ser
Links:
dbSNP: rs1782455
NCBI 1000 Genomes Browser:
rs1782455
Molecular consequence:
  • NM_006610.4:c.1479C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Amyotrophic Lateral Sclerosis, Dominant
Identifiers:
MedGen: CN239175

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000482914Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000482914.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024