NM_000059.4(BRCA2):c.4141_4143del (p.Lys1381del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 13, 2024
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:: RCV000160284.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.4141_4143del (p.Lys1381del)]

NM_000059.4(BRCA2):c.4141_4143del (p.Lys1381del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.4141_4143del (p.Lys1381del)

HGVS:

NC_000013.11:g.32338496_32338498del
NG_012772.3:g.28017_28019del
NM_000059.4:c.4141_4143delMANE SELECT
NP_000050.2:p.Lys1381del
NP_000050.3:p.Lys1381del
LRG_293t1:c.4141_4143del
LRG_293:g.28017_28019del
LRG_293p1:p.Lys1381del
NC_000013.10:g.32912633_32912635del
NM_000059.3:c.4141_4143del
NM_000059.3:c.4141_4143delAAA
p.K1381del

Protein change:

K1381del

Links:

dbSNP: rs587782157

NCBI 1000 Genomes Browser:

rs587782157

Molecular consequence:

NM_000059.4:c.4141_4143del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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LemA family protein [Enterococcus faecalis]
LemA family protein [Enterococcus faecalis]
gi|1350107713|gb|PQD21729.1||gnl|WG K|CUM73_01330

Protein
Mus musculus matrix-remodelling associated 7, mRNA (cDNA clone MGC:182479 IMAGE:...
Mus musculus matrix-remodelling associated 7, mRNA (cDNA clone MGC:182479 IMAGE:9056373), complete cds
gi|187957679|gb|BC147320.1|

Nucleotide
MASP1 [Gorilla gorilla gorilla]
MASP1 [Gorilla gorilla gorilla]
Gene ID:101144543

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210744	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 13, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000210744

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 13, 2024)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000210744.7

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

Description

In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Published functional study demonstrates proficient homologous recombination (PMID: 38398132); Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.4369_4371delAAA; This variant is associated with the following publications: (PMID: 24094589, 31131967, 38398132)

#	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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