NM_007294.3(BRCA1):c.4035delA (p.Glu1346Lysfs) AND Hereditary cancer-predisposing syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 27, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000130638.5

Allele description

NM_007294.3(BRCA1):c.4035delA (p.Glu1346Lysfs)

Gene:

BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.3(BRCA1):c.4035delA (p.Glu1346Lysfs)

Other names:

Glu1346LysfsX20

HGVS:

NC_000017.11:g.43091496delT
NG_005905.2:g.126488delA
NM_007294.3:c.4035delA
NM_007298.3:c.788-464delA
NM_007300.3:c.4035delA
NP_009225.1:p.Glu1346Lysfs
NP_009231.2:p.Glu1346Lysfs
LRG_292t1:c.4035delA
LRG_292:g.126488delA
LRG_292p1:p.Glu1346Lysfs
NC_000017.10:g.41243513delT
NM_007294.3:c.4035del
NR_027676.1:n.4171delA
U14680.1:n.4154delA
p.E1346Kfs*20
p.E1346KfsX20
p.Glu1346Lysfs*20
p.Glu1346LysfsX20

Nucleotide change:

4154delA

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4154&base_change=del A; OMIM: 113705.0030; dbSNP: rs80357711

NCBI 1000 Genomes Browser:

rs80357711

Allele Frequency:

0.00004(-)

Molecular consequence:

NM_007294.3:c.4035delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.3:c.788-464delA - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.1:n.4171delA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000185517	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Pathogenic (Dec 27, 2016)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 8644703, 23274591, 20345474, 20507347, 24504028 Citation Link,
SCV000683145	Color	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 4, 2015)	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

SCV000185517

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Pathogenic
(Dec 27, 2016)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV000683145

Color

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 4, 2015)

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	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. UKCCCR Familial Ovarian Cancer Study Group.

Gayther SA, Harrington P, Russell P, Kharkevich G, Garkavtseva RF, Ponder BA.

Am J Hum Genet. 1996 Mar;58(3):451-6.

PubMed [citation]

PMID:: 8644703
PMCID:: PMC1914578

Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation.

Janavičius R, Rudaitis V, Feng BJ, Ozolina S, Griškevičius L, Goldgar D, Tihomirova L.

Eur J Med Genet. 2013 Mar;56(3):125-30. doi: 10.1016/j.ejmg.2012.12.007. Epub 2012 Dec 27.

PubMed [citation]

PMID:: 23274591

See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000185517.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

Description

Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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

From Color, SCV000683145.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 10, 2018

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