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NM_004333.6(BRAF):c.977T>C (p.Ile326Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 22, 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:
RCV000482168.2

Allele description [Variation Report for NM_004333.6(BRAF):c.977T>C (p.Ile326Thr)]

NM_004333.6(BRAF):c.977T>C (p.Ile326Thr)

Gene:
BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_004333.6(BRAF):c.977T>C (p.Ile326Thr)
HGVS:
  • NC_000007.14:g.140800365A>G
  • NG_007873.3:g.129400T>C
  • NM_001354609.2:c.977T>C
  • NM_001374244.1:c.977T>C
  • NM_001374258.1:c.977T>C
  • NM_001378467.1:c.986T>C
  • NM_001378468.1:c.977T>C
  • NM_001378469.1:c.977T>C
  • NM_001378470.1:c.875T>C
  • NM_001378471.1:c.977T>C
  • NM_001378472.1:c.821T>C
  • NM_001378473.1:c.821T>C
  • NM_001378474.1:c.977T>C
  • NM_001378475.1:c.713T>C
  • NM_004333.6:c.977T>CMANE SELECT
  • NP_001341538.1:p.Ile326Thr
  • NP_001361173.1:p.Ile326Thr
  • NP_001361187.1:p.Ile326Thr
  • NP_001365396.1:p.Ile329Thr
  • NP_001365397.1:p.Ile326Thr
  • NP_001365398.1:p.Ile326Thr
  • NP_001365399.1:p.Ile292Thr
  • NP_001365400.1:p.Ile326Thr
  • NP_001365401.1:p.Ile274Thr
  • NP_001365402.1:p.Ile274Thr
  • NP_001365403.1:p.Ile326Thr
  • NP_001365404.1:p.Ile238Thr
  • NP_004324.2:p.Ile326Thr
  • LRG_299t1:c.977T>C
  • LRG_299:g.129400T>C
  • NC_000007.13:g.140500165A>G
  • NM_004333.4:c.977T>C
  • NM_004333.5:c.977T>C
Protein change:
I238T
Links:
dbSNP: rs368435578
NCBI 1000 Genomes Browser:
rs368435578
Molecular consequence:
  • NM_001354609.2:c.977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.875T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.821T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.821T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.713T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.977T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000574227GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Nov 22, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000574227.5

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

Description

The I326T variant of uncertain significance in the BRAF gene has not been published as pathogenic in association with cardiomyopathy or been reported as benign to our knowledge. The I326T variant is observed in 4/24034 (0.02%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). This variant has also been identified in conjunction with additional cardiogenetic variants in one other individual referred for cardiac genetic testing at GeneDx; however, thus far, segregation data is limited or absent due to the lack of clinical information provided and/or insufficient participation by informative family members. The I326T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.

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

Last Updated: Sep 29, 2024