rs12296063

Variant names:

• chr11-93187236-C-G
• rs12296063
• NM_152313.4:c.56-1422G>C

Your query was ambiguous. Multiple possible variants found:

• chr11-93187236-C-G
• chr11-93187236-C-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_152313.4(SLC36A4):​c.56-1422G>C variant causes a intron 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: SLC36A4 NM_152313.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.158
• Publications: 4 publications found

Genes affected

SLC36A4 (HGNC:19660): (solute carrier family 36 member 4) SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SLC36A4	NM_152313.4	c.56-1422G>C		intron_variant	Intron 1 of 10	ENST00000326402.9	NP_689526.2
SLC36A4	NM_001286139.2	c.-321-1422G>C		intron_variant	Intron 1 of 10		NP_001273068.1
SLC36A4	XM_047426350.1	c.-2-1422G>C		intron_variant	Intron 1 of 10		XP_047282306.1
SLC36A4	XM_047426352.1	c.56-1422G>C		intron_variant	Intron 1 of 9		XP_047282308.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SLC36A4	ENST00000326402.9	c.56-1422G>C		intron_variant	Intron 1 of 10	1	NM_152313.4	ENSP00000317382.4
SLC36A4	ENST00000529184.5	c.-321-1422G>C		intron_variant	Intron 1 of 10	2		ENSP00000436570.1
SLC36A4	ENST00000524875.1	n.56-1422G>C		intron_variant	Intron 1 of 6	3		ENSP00000434879.1
SLC36A4	ENST00000527743.1	n.153-1422G>C		intron_variant	Intron 1 of 1	2

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 30

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.8
DANN	Benign	0.41
PhyloP100		0.16

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: rs12296063; hg19: chr11-92920402;