rs6984928

Variant names:

• chr8-123142035-C-A
• rs6984928
• NM_145647.4:c.2641-227C>A

Your query was ambiguous. Multiple possible variants found:

• chr8-123142035-C-A
• chr8-123142035-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_145647.4(TBC1D31):​c.2641-227C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0804 in 151,374 control chromosomes in the GnomAD database, including 622 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.080 (622 hom., cov: 28)
• Consequence: TBC1D31 NM_145647.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.04
• Publications: 3 publications found

Genes affected

TBC1D31 (HGNC:30888): (TBC1 domain family member 31) Located in centrosome. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.16 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TBC1D31	NM_145647.4	c.2641-227C>A		intron_variant	Intron 18 of 21	ENST00000287380.6	NP_663622.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TBC1D31	ENST00000287380.6	c.2641-227C>A		intron_variant	Intron 18 of 21	1	NM_145647.4	ENSP00000287380.1

Frequencies

GnomAD3 genomes AF: 0.0803 AC: 12150 AN: 151256 Hom.: 618 Cov.: 28

Gnomad AFR AF: 0.0701

Gnomad AMI AF: 0.0934

Gnomad AMR AF: 0.164

Gnomad ASJ AF: 0.0523

Gnomad EAS AF: 0.0436

Gnomad SAS AF: 0.0837

Gnomad FIN AF: 0.0864

Gnomad MID AF: 0.0669

Gnomad NFE AF: 0.0705

Gnomad OTH AF: 0.0837

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

GnomAD4 genome AF: 0.0804 AC: 12169 AN: 151374 Hom.: 622 Cov.: 28 AF XY: 0.0827 AC XY: 6118 AN XY: 73940

African (AFR) AF: 0.0702 AC: 2895 AN: 41224

American (AMR) AF: 0.165 AC: 2511 AN: 15208

Ashkenazi Jewish (ASJ) AF: 0.0523 AC: 181 AN: 3464

East Asian (EAS) AF: 0.0434 AC: 222 AN: 5120

South Asian (SAS) AF: 0.0832 AC: 398 AN: 4786

European-Finnish (FIN) AF: 0.0864 AC: 902 AN: 10442

Middle Eastern (MID) AF: 0.0719 AC: 21 AN: 292

European-Non Finnish (NFE) AF: 0.0705 AC: 4781 AN: 67828

Other (OTH) AF: 0.0824 AC: 173 AN: 2100

Alfa AF: 0.0191 Hom.: 1007

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.26
DANN	Benign	0.77
PhyloP100		-1.0
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs6984928; hg19: chr8-124154275;