10-91954050-A-G

Position:

• chr10-91954050-A-G

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The NM_003972.3(BTAF1):​c.701+177A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.302 in 152,068 control chromosomes in the GnomAD database, including 8,523 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.30 (8523 hom., cov: 32)
• Consequence: BTAF1 NM_003972.3 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 1.74

Genes affected

BTAF1 (HGNC:17307): (B-TFIID TATA-box binding protein associated factor 1) This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]

BTAF1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.65).
• BP6: Variant 10-91954050-A-G is Benign according to our data. Variant chr10-91954050-A-G is described in ClinVar as [Benign]. Clinvar id is 1248537.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.502 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
BTAF1	NM_003972.3	c.701+177A>G		intron_variant		ENST00000265990.12	NP_003963.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
BTAF1	ENST00000265990.12	c.701+177A>G		intron_variant		1	NM_003972.3	ENSP00000265990.6

Frequencies

GnomAD3 genomes AF: 0.302 AC: 45900 AN: 151950 Hom.: 8511 Cov.: 32

Gnomad AFR AF: 0.0895

Gnomad AMI AF: 0.369

Gnomad AMR AF: 0.384

Gnomad ASJ AF: 0.318

Gnomad EAS AF: 0.487

Gnomad SAS AF: 0.520

Gnomad FIN AF: 0.466

Gnomad MID AF: 0.282

Gnomad NFE AF: 0.357

Gnomad OTH AF: 0.285

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.302 AC: 45931 AN: 152068 Hom.: 8523 Cov.: 32 AF XY: 0.314 AC XY: 23335 AN XY: 74298

Gnomad4 AFR AF: 0.0896

Gnomad4 AMR AF: 0.385

Gnomad4 ASJ AF: 0.318

Gnomad4 EAS AF: 0.487

Gnomad4 SAS AF: 0.519

Gnomad4 FIN AF: 0.466

Gnomad4 NFE AF: 0.357

Gnomad4 OTH AF: 0.284

Alfa AF: 0.353 Hom.: 4734

Bravo AF: 0.281

Asia WGS AF: 0.491 AC: 1705 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Nov 10, 2018

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.65
CADD	Benign	15
DANN	Benign	0.87

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

Other links and lift over

dbSNP: rs12763600; hg19: chr10-93713807; COSMIC: COSV56431303; COSMIC: COSV56431303;