NM_020746.5(MAVS):c.1606C>T (p.Arg536Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 3, 2022
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:
RCV004223797.1

Allele description [Variation Report for NM_020746.5(MAVS):c.1606C>T (p.Arg536Trp)]

NM_020746.5(MAVS):c.1606C>T (p.Arg536Trp)

Gene:
MAVS:mitochondrial antiviral signaling protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_020746.5(MAVS):c.1606C>T (p.Arg536Trp)
HGVS:
  • NC_000020.11:g.3866130C>T
  • NG_030028.1:g.24332C>T
  • NG_142302.1:g.219C>T
  • NM_001206491.2:c.1183C>T
  • NM_001385663.1:c.1183C>T
  • NM_020746.5:c.1606C>TMANE SELECT
  • NP_001193420.1:p.Arg395Trp
  • NP_001372592.1:p.Arg395Trp
  • NP_065797.2:p.Arg536Trp
  • NC_000020.10:g.3846777C>T
  • NM_020746.4:c.1606C>T
  • NR_037921.2:n.1570C>T
  • NR_037922.1:n.1603C>T
Protein change:
R395W
Molecular consequence:
  • NM_001206491.2:c.1183C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385663.1:c.1183C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020746.5:c.1606C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037921.2:n.1570C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003726299Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 3, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003726299.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1606C>T (p.R536W) alteration is located in exon 7 (coding exon 6) of the MAVS gene. This alteration results from a C to T substitution at nucleotide position 1606, causing the arginine (R) at amino acid position 536 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024