12-59643989-T-G

Variant names:

• chr12-59643989-T-G
• rs982322
• NM_001270623.2:c.-129-11163T>G

Variant summary

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

The NM_001270623.2(SLC16A7):​c.-129-11163T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.309 in 152,048 control chromosomes in the GnomAD database, including 9,317 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 0.31 (9317 hom., cov: 32)
• Consequence: SLC16A7 NM_001270623.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.814
• Publications: 2 publications found

Genes affected

SLC16A7 (HGNC:10928): (solute carrier family 16 member 7) This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.643 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001270623.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC16A7	NM_001270623.2	MANE Select	c.-129-11163T>G		intron	N/A	NP_001257552.1	O60669
	SLC16A7	NM_001270622.2		c.-109-11163T>G		intron	N/A	NP_001257551.1	O60669

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC16A7	ENST00000547379.6	TSL:1 MANE Select	c.-129-11163T>G		intron	N/A	ENSP00000448071.1	O60669
	SLC16A7	ENST00000552432.5	TSL:1	c.-109-11163T>G		intron	N/A	ENSP00000449547.1	O60669
	SLC16A7	ENST00000858943.1		c.-129-11163T>G		intron	N/A	ENSP00000529002.1

Frequencies

GnomAD3 genomes AF: 0.308 AC: 46827 AN: 151932 Hom.: 9267 Cov.: 32

Gnomad AFR AF: 0.530

Gnomad AMI AF: 0.226

Gnomad AMR AF: 0.240

Gnomad ASJ AF: 0.285

Gnomad EAS AF: 0.661

Gnomad SAS AF: 0.330

Gnomad FIN AF: 0.130

Gnomad MID AF: 0.326

Gnomad NFE AF: 0.191

Gnomad OTH AF: 0.286

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

GnomAD4 genome AF: 0.309 AC: 46931 AN: 152048 Hom.: 9317 Cov.: 32 AF XY: 0.307 AC XY: 22847 AN XY: 74324

African (AFR) AF: 0.531 AC: 22022 AN: 41446

American (AMR) AF: 0.239 AC: 3654 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.285 AC: 989 AN: 3468

East Asian (EAS) AF: 0.661 AC: 3413 AN: 5160

South Asian (SAS) AF: 0.330 AC: 1588 AN: 4816

European-Finnish (FIN) AF: 0.130 AC: 1381 AN: 10594

Middle Eastern (MID) AF: 0.327 AC: 96 AN: 294

European-Non Finnish (NFE) AF: 0.191 AC: 12966 AN: 67986

Other (OTH) AF: 0.292 AC: 616 AN: 2108

Alfa AF: 0.223 Hom.: 7470

Bravo AF: 0.327

Asia WGS AF: 0.488 AC: 1693 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.46
DANN	Benign	0.71
PhyloP100		-0.81
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: rs982322; hg19: chr12-60037770;