chr2-214728537-C-CT

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1

The NM_000465.4(BARD1):​c.*138_*139insA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.39 ( 11459 hom., cov: 0)
Exomes 𝑓: 0.37 ( 848 hom. )

Consequence

BARD1
NM_000465.4 3_prime_UTR

Scores

Not classified

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.392
Variant links:
Genes affected
BARD1 (HGNC:952): (BRCA1 associated RING domain 1) This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -10 ACMG points.

BP6
Variant 2-214728537-C-CT is Benign according to our data. Variant chr2-214728537-C-CT is described in ClinVar as [Benign]. Clinvar id is 1292322.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.626 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
BARD1NM_000465.4 linkuse as main transcriptc.*138_*139insA 3_prime_UTR_variant 11/11 ENST00000260947.9 NP_000456.2

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
BARD1ENST00000260947.9 linkuse as main transcriptc.*138_*139insA 3_prime_UTR_variant 11/111 NM_000465.4 ENSP00000260947 P2Q99728-1

Frequencies

GnomAD3 genomes
AF:
0.387
AC:
55741
AN:
143882
Hom.:
11461
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.265
Gnomad AMI
AF:
0.414
Gnomad AMR
AF:
0.477
Gnomad ASJ
AF:
0.450
Gnomad EAS
AF:
0.645
Gnomad SAS
AF:
0.480
Gnomad FIN
AF:
0.337
Gnomad MID
AF:
0.432
Gnomad NFE
AF:
0.416
Gnomad OTH
AF:
0.417
GnomAD4 exome
AF:
0.366
AC:
159483
AN:
435922
Hom.:
848
Cov.:
6
AF XY:
0.365
AC XY:
82593
AN XY:
226016
show subpopulations
Gnomad4 AFR exome
AF:
0.298
Gnomad4 AMR exome
AF:
0.377
Gnomad4 ASJ exome
AF:
0.368
Gnomad4 EAS exome
AF:
0.441
Gnomad4 SAS exome
AF:
0.363
Gnomad4 FIN exome
AF:
0.356
Gnomad4 NFE exome
AF:
0.363
Gnomad4 OTH exome
AF:
0.360
GnomAD4 genome
AF:
0.387
AC:
55745
AN:
143908
Hom.:
11459
Cov.:
0
AF XY:
0.389
AC XY:
27078
AN XY:
69594
show subpopulations
Gnomad4 AFR
AF:
0.265
Gnomad4 AMR
AF:
0.478
Gnomad4 ASJ
AF:
0.450
Gnomad4 EAS
AF:
0.645
Gnomad4 SAS
AF:
0.480
Gnomad4 FIN
AF:
0.337
Gnomad4 NFE
AF:
0.416
Gnomad4 OTH
AF:
0.415

ClinVar

Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Benign, criteria provided, single submitterclinical testingGeneDxAug 14, 2019- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs113789798; hg19: chr2-215593261; API