13-102845499-G-C

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1

The NM_001204425.2(BIVM-ERCC5):​c.1450+5696G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.248 in 152,384 control chromosomes in the GnomAD database, including 5,415 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.25 ( 5407 hom., cov: 33)
Exomes 𝑓: 0.22 ( 8 hom. )

Consequence

BIVM-ERCC5
NM_001204425.2 intron

Scores

2

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.599
Variant links:
Genes affected

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -20 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
BP6
Variant 13-102845499-G-C is Benign according to our data. Variant chr13-102845499-G-C is described in ClinVar as [Benign]. Clinvar id is 1242141.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.383 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
BIVM-ERCC5NM_001204425.2 linkuse as main transcriptc.1450+5696G>C intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.248
AC:
37715
AN:
151944
Hom.:
5401
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.382
Gnomad AMI
AF:
0.177
Gnomad AMR
AF:
0.255
Gnomad ASJ
AF:
0.221
Gnomad EAS
AF:
0.396
Gnomad SAS
AF:
0.195
Gnomad FIN
AF:
0.173
Gnomad MID
AF:
0.264
Gnomad NFE
AF:
0.172
Gnomad OTH
AF:
0.235
GnomAD4 exome
AF:
0.216
AC:
69
AN:
320
Hom.:
8
Cov.:
0
AF XY:
0.179
AC XY:
33
AN XY:
184
show subpopulations
Gnomad4 AFR exome
AF:
0.500
Gnomad4 AMR exome
AF:
0.167
Gnomad4 ASJ exome
AF:
0.100
Gnomad4 EAS exome
AF:
0.375
Gnomad4 SAS exome
AF:
0.167
Gnomad4 NFE exome
AF:
0.161
Gnomad4 OTH exome
AF:
0.238
GnomAD4 genome
AF:
0.248
AC:
37752
AN:
152064
Hom.:
5407
Cov.:
33
AF XY:
0.248
AC XY:
18405
AN XY:
74334
show subpopulations
Gnomad4 AFR
AF:
0.381
Gnomad4 AMR
AF:
0.255
Gnomad4 ASJ
AF:
0.221
Gnomad4 EAS
AF:
0.397
Gnomad4 SAS
AF:
0.195
Gnomad4 FIN
AF:
0.173
Gnomad4 NFE
AF:
0.172
Gnomad4 OTH
AF:
0.235
Alfa
AF:
0.210
Hom.:
494
Bravo
AF:
0.267
Asia WGS
AF:
0.312
AC:
1085
AN:
3478

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 testingGeneDxApr 09, 2019- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.83
CADD
Benign
2.2
DANN
Benign
0.46

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: rs1323697; hg19: chr13-103497849; API