rs10500780

Variant names:

• chr11-13401400-C-A
• rs10500780
• NM_032320.7:c.1117+1768G>T

Your query was ambiguous. Multiple possible variants found:

• chr11-13401400-C-A
• chr11-13401400-C-T

Variant summary

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

The NM_032320.7(BTBD10):​c.1117+1768G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.127 in 152,006 control chromosomes in the GnomAD database, including 1,546 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 0.13 (1546 hom., cov: 31)
• Consequence: BTBD10 NM_032320.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.218
• Publications: 3 publications found

Genes affected

BTBD10 (HGNC:21445): (BTB domain containing 10) Predicted to be involved in negative regulation of neuron death; positive regulation of phosphorylation; and type B pancreatic cell proliferation. Located in fibrillar center and nucleoplasm. [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=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.303 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_032320.7. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	BTBD10	NM_032320.7	MANE Select	c.1117+1768G>T		intron	N/A	NP_115696.2
	BTBD10	NM_001297742.2		c.1141+1768G>T		intron	N/A	NP_001284671.1
	BTBD10	NM_001297741.2		c.973+1768G>T		intron	N/A	NP_001284670.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	BTBD10	ENST00000278174.10	TSL:1 MANE Select	c.1117+1768G>T		intron	N/A	ENSP00000278174.5
	BTBD10	ENST00000530907.5	TSL:2	c.1141+1768G>T		intron	N/A	ENSP00000431186.1
	BTBD10	ENST00000528120.5	TSL:2	c.973+1768G>T		intron	N/A	ENSP00000435257.1

Frequencies

GnomAD3 genomes AF: 0.127 AC: 19316 AN: 151890 Hom.: 1544 Cov.: 31

Gnomad AFR AF: 0.0438

Gnomad AMI AF: 0.0538

Gnomad AMR AF: 0.115

Gnomad ASJ AF: 0.189

Gnomad EAS AF: 0.113

Gnomad SAS AF: 0.316

Gnomad FIN AF: 0.173

Gnomad MID AF: 0.269

Gnomad NFE AF: 0.158

Gnomad OTH AF: 0.145

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

GnomAD4 genome AF: 0.127 AC: 19323 AN: 152006 Hom.: 1546 Cov.: 31 AF XY: 0.132 AC XY: 9807 AN XY: 74260

African (AFR) AF: 0.0437 AC: 1813 AN: 41498

American (AMR) AF: 0.115 AC: 1757 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.189 AC: 655 AN: 3470

East Asian (EAS) AF: 0.113 AC: 586 AN: 5178

South Asian (SAS) AF: 0.317 AC: 1520 AN: 4802

European-Finnish (FIN) AF: 0.173 AC: 1823 AN: 10526

Middle Eastern (MID) AF: 0.279 AC: 82 AN: 294

European-Non Finnish (NFE) AF: 0.158 AC: 10726 AN: 67942

Other (OTH) AF: 0.148 AC: 312 AN: 2108

Alfa AF: 0.123 Hom.: 527

Bravo AF: 0.115

Asia WGS AF: 0.213 AC: 737 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.8
DANN	Benign	0.63
PhyloP100		0.22
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: rs10500780; hg19: chr11-13422947;