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NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 6, 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:
RCV000780050.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)]

NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)

Gene:
BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
HGVS:
  • NC_000017.11:g.61684056G>A
  • NG_007409.2:g.184504C>T
  • NM_032043.3:c.2990C>TMANE SELECT
  • NP_114432.2:p.Thr997Ile
  • NP_114432.2:p.Thr997Ile
  • LRG_300t1:c.2990C>T
  • LRG_300:g.184504C>T
  • LRG_300p1:p.Thr997Ile
  • NC_000017.10:g.59761417G>A
  • NM_032043.2:c.2990C>T
Protein change:
T997I
Links:
dbSNP: rs749978235
NCBI 1000 Genomes Browser:
rs749978235
Molecular consequence:
  • NM_032043.3:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000917070Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 6, 2017) 		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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000917070.1

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

Description

Variant summary: The BRIP1 c.2990C>T (p.Thr997Ile) variant involves the alteration of a non-conserved nucleotide and 3/4 in silico tools (SNPsandGO not captured due to low reliability index) predict a benign outcome for this variant. However, these predictions have yet to be functionally assessed. This variant was found in 1/245770 control chromosomes at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRIP1 variant (0.0000625). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertian Significance (VUS)," until additional information becomes available.

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

Last Updated: Sep 8, 2024