NM_032043.3(BRIP1):c.1321G>A (p.Val441Met) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 11, 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:: RCV000662896.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.1321G>A (p.Val441Met)]

NM_032043.3(BRIP1):c.1321G>A (p.Val441Met)

Gene:

BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.1321G>A (p.Val441Met)

HGVS:

NC_000017.11:g.61799119C>T
NG_007409.2:g.69441G>A
NM_032043.3:c.1321G>AMANE SELECT
NP_114432.2:p.Val441Met
NP_114432.2:p.Val441Met
LRG_300t1:c.1321G>A
LRG_300:g.69441G>A
LRG_300p1:p.Val441Met
NC_000017.10:g.59876480C>T
NM_032043.2:c.1321G>A

Protein change:

V441M

Links:

dbSNP: rs1060501782

NCBI 1000 Genomes Browser:

rs1060501782

Molecular consequence:

NM_032043.3:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Fanconi anemia complementation group J
Identifiers:: MONDO: MONDO:0012187; MedGen: C1836860; Orphanet: 84; OMIM: 609054

Name:: Ovarian neoplasm
Synonyms:: Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
Identifiers:: MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615

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Clostridium hathewayi DSM 13479 genomic scaffold Scfld1, whole genome shotgun se...
Clostridium hathewayi DSM 13479 genomic scaffold Scfld1, whole genome shotgun sequence
gi|229784127|gb|GG667608.1||gnl|WGS 01|Scfld1

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000785816	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Dec 11, 2017)	unknown	clinical testing	Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000785816

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Dec 11, 2017)

unknown

clinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000785816.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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