NM_000059.4(BRCA2):c.8953+98T>C AND not specified

Germline classification:: Benign (1 submission)
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:: RCV000504250.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.8953+98T>C]

NM_000059.4(BRCA2):c.8953+98T>C

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.8953+98T>C

Other names:

IVS22+98T/C; IVS22+98T>C

HGVS:

NC_000013.11:g.32379613T>C
NG_012772.3:g.69134T>C
NM_000059.4:c.8953+98T>CMANE SELECT
LRG_293t1:c.8953+98T>C
LRG_293:g.69134T>C
NC_000013.10:g.32953750T>C
NM_000059.3:c.8953+98T>C
U43746.1:n.9181+98T>C

Links:

Breast Cancer Information Core (BIC) (BRCA2): 9181+98&base_change=T to C; dbSNP: rs81002901

NCBI 1000 Genomes Browser:

rs81002901

Molecular consequence:

NM_000059.4:c.8953+98T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Abutilon haenke (0)
PopSet
glucose-6-phosphate exchanger SLC37A4 isoform c [Mus musculus]
glucose-6-phosphate exchanger SLC37A4 isoform c [Mus musculus]
gi|1820395064|ref|NP_001365760.1|

Protein
Mus musculus solute carrier family 37 (glucose-6-phosphate transporter), member ...
Mus musculus solute carrier family 37 (glucose-6-phosphate transporter), member 4 (Slc37a4), transcript variant 6, mRNA
gi|1820395102|ref|NM_001378829.1|

Nucleotide
Dickeya dianthicola strain S4.16.03.LID contig_17, whole genome shotgun sequence
Dickeya dianthicola strain S4.16.03.LID contig_17, whole genome shotgun sequence
gi|1482306774|gb|QZDO01000017.1||gn :QZDO01|contig_17

Nucleotide
Cpgi5161 AND (alive[prop]) (0)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000592238	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000592238

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592238.1

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

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

Last Updated: Sep 29, 2024

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