NM_007294.4(BRCA1):c.3695_3699GTAAA[1] (p.Val1234fs) AND Hereditary cancer-predisposing syndrome

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

Clinical significance:Pathogenic (Last evaluated: Aug 13, 2018)
Review status:2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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Based on:: 2 submissions [Details]
Record status:: current
Accession:: RCV000131816.5

Allele description

NM_007294.4(BRCA1):c.3695_3699GTAAA[1] (p.Val1234fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3695_3699GTAAA[1] (p.Val1234fs)

Other names:

3819_3823delGTAAA

HGVS:

NC_000017.11:g.43091827_43091831TTTAC[1]
NG_005905.2:g.126148_126152GTAAA[1]
NM_007294.4:c.3695_3699GTAAA[1]
NM_007297.4:c.3554_3558GTAAA[1]
NM_007298.3:c.788-799_788-795del
NM_007299.4:c.788-799_788-795del
NM_007300.4:c.3695_3699GTAAA[1]
NP_009225.1:p.Val1234fs
NP_009228.2:p.Val1187fs
NP_009231.2:p.Val1234fs
LRG_292:g.126148_126152GTAAA[1]
NC_000017.10:g.41243844_41243848TTTAC[1]
NC_000017.10:g.41243844_41243848delTTTAC
NC_000017.10:g.41243849_41243853delTTTAC
NC_000017.10:g.41243849_41243853delTTTAC
NM_007294.3:c.3700_3704delGTAAA
NR_027676.2:n.3872_3876GTAAA[1]
U14680.1:n.3819_3823delGTAAA
p.V1234Qfs*8
p.Val1234Glnfs*8
p.Val1234GlnfsX8

Nucleotide change:

3819del5

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3819&base_change=del GTAAA; dbSNP: rs80357609

NCBI 1000 Genomes Browser:

rs80357609

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MONDO: MONDO:0015356; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000186871	Ambry Genetics	criteria provided, single submitter Ambry Autosomal Dominant and X-Linked criteria (3/2017)	Pathogenic (Aug 13, 2018)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 29335924, 21324516, 23479189, 29453630, 22535016, 28324225, 29492181, 28205045, 7606717, 29855275 Citation Link,
SCV000683123	Color	criteria provided, single submitter ACMG Guidelines, 2015	Pathogenic (Apr 7, 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

SCV000186871

Ambry Genetics

criteria provided, single submitter

Ambry Autosomal Dominant and X-Linked criteria (3/2017)

Pathogenic
(Aug 13, 2018)

germline

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link,

SCV000683123

Color

criteria provided, single submitter

ACMG Guidelines, 2015

Pathogenic
(Apr 7, 2015)

germline

clinical testing

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

Summary from all submissions

Help

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

BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.

Jakimovska M, Maleva Kostovska I, Popovska-Jankovic K, Kubelka-Sabit K, Karadjozov M, Stojanovska L, Arsovski A, Smichkoska S, Lazarova E, Jakimovska Dimitrovska M, Plaseska-Karanfilska D.

Breast Cancer Res Treat. 2018 Apr;168(3):745-753. doi: 10.1007/s10549-017-4642-5. Epub 2018 Jan 15.

PubMed [citation]

PMID:: 29335924

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, Fan I, Bradley L, Shaw PA, Narod SA.

Gynecol Oncol. 2011 May 1;121(2):353-7. doi: 10.1016/j.ygyno.2011.01.020. Epub 2011 Feb 15.

PubMed [citation]

PMID:: 21324516

See all PubMed Citations (11)

Details of each submission

From Ambry Genetics, SCV000186871.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (10)

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, SCV000683123.1

#	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: Jun 15, 2020

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