chr17-7042968-T-G

Variant names:

• chr17-7042968-T-G
• rs13342692
• NM_001370549.1:c.308A>C

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_001370549.1(SLC16A11):​c.308A>C​(p.Asp103Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D103G) has been classified as Benign.

• Frequency: Genomes: not found (cov: 33)
• Consequence: SLC16A11 NM_001370549.1 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.276

Genes affected

SLC16A11 (HGNC:23093): (solute carrier family 16 member 11) Enables pyruvate transmembrane transporter activity. Involved in lipid metabolic process. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

LOC124903909 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.1357905).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SLC16A11	NM_001370549.1	c.308A>C	p.Asp103Ala	missense_variant	Exon 3 of 5	ENST00000574600.3	NP_001357478.1
SLC16A11	NM_153357.3	c.308A>C	p.Asp103Ala	missense_variant	Exon 2 of 4		NP_699188.2
SLC16A11	NM_001370553.1	c.308A>C	p.Asp103Ala	missense_variant	Exon 3 of 4		NP_001357482.1
LOC124903909	XR_007065598.1	n.-99T>G		upstream_gene_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SLC16A11	ENST00000574600.3	c.308A>C	p.Asp103Ala	missense_variant	Exon 3 of 5	3	NM_001370549.1	ENSP00000460927.2
SLC16A11	ENST00000573338.1	n.639A>C		non_coding_transcript_exon_variant	Exon 1 of 2	1
SLC16A11	ENST00000662352.3	c.308A>C	p.Asp103Ala	missense_variant	Exon 2 of 4			ENSP00000499634.1
SLC16A11	ENST00000673828.2	c.308A>C	p.Asp103Ala	missense_variant	Exon 3 of 4			ENSP00000501313.1

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 32

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.13
BayesDel_addAF	Benign	-0.21	T
BayesDel_noAF	Benign	-0.54
CADD	Benign	17
DANN	Uncertain	0.98
DEOGEN2	Benign	0.058	T;.
Eigen	Benign	-0.67
Eigen_PC	Benign	-0.54
FATHMM_MKL	Benign	0.13	N
LIST_S2	Benign	0.32	T;T
M_CAP	Benign	0.0061	T
MetaRNN	Benign	0.14	T;T
MetaSVM	Benign	-1.0	T
MutationAssessor	Benign	0.90	L;.
PrimateAI	Benign	0.43	T
PROVEAN	Benign	0.33	N;N
REVEL	Benign	0.088
Sift	Uncertain	0.024	D;D
Sift4G	Benign	0.10	T;T
Polyphen		0.0010	B;.
Vest4		0.11
MutPred		0.32		Loss of stability (P = 0.2334);.;
MVP		0.30
MPC		0.41
ClinPred		0.16	T
GERP RS		5.2
Varity_R		0.085
gMVP		0.29

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		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: rs13342692; hg19: chr17-6946287;