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NM_174934.4(SCN4B):c.480C>T (p.Asn160=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 17, 2018
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:
RCV002338990.2

Allele description [Variation Report for NM_174934.4(SCN4B):c.480C>T (p.Asn160=)]

NM_174934.4(SCN4B):c.480C>T (p.Asn160=)

Gene:
SCN4B:sodium voltage-gated channel beta subunit 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_174934.4(SCN4B):c.480C>T (p.Asn160=)
HGVS:
  • NC_000011.10:g.118141320G>A
  • NG_011710.1:g.16596C>T
  • NM_001142348.2:c.78C>T
  • NM_001142349.2:c.150C>T
  • NM_174934.4:c.480C>TMANE SELECT
  • NP_001135820.1:p.Asn26=
  • NP_001135821.1:p.Asn50=
  • NP_777594.1:p.Asn160=
  • NP_777594.1:p.Asn160=
  • LRG_330t1:c.480C>T
  • LRG_330:g.16596C>T
  • LRG_330p1:p.Asn160=
  • NC_000011.9:g.118012035G>A
  • NM_174934.3:c.480C>T
  • NR_024527.2:n.469C>T
Links:
dbSNP: rs72546675
NCBI 1000 Genomes Browser:
rs72546675
Molecular consequence:
  • NR_024527.2:n.469C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001142348.2:c.78C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142349.2:c.150C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_174934.4:c.480C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002639603Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 17, 2018) 		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, SCV002639603.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024