rs13357969

Variant names:

• chr5-151371996-A-C
• rs13357969
• ENST00000517788.1:n.951-5338T>G

Your query was ambiguous. Multiple possible variants found:

• chr5-151371996-A-C
• chr5-151371996-A-G
• chr5-151371996-A-T

Variant summary

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

The ENST00000517788.1(ENSG00000253897):​n.951-5338T>G 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: 31)
• Consequence: ENSG00000253897 ENST00000517788.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.250
• Publications: 1 publications found

Genes affected

ENSG00000253897 (HGNC:):

SLC36A1 (HGNC:18761): (solute carrier family 36 member 1) This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

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=-0.91).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SLC36A1	XM_011537591.2	c.-90+27262A>C		intron_variant	Intron 1 of 11		XP_011535893.1
LOC105378234	XR_007059004.1	n.1345-19190T>G		intron_variant	Intron 6 of 6
LOC105378234	XR_007059005.1	n.1127-5338T>G		intron_variant	Intron 4 of 4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000253897	ENST00000517788.1	n.951-5338T>G		intron_variant	Intron 8 of 8	6
ENSG00000290991	ENST00000647906.1	n.1057-5338T>G		intron_variant	Intron 3 of 3
ENSG00000297368	ENST00000747508.1	n.675+27262A>C		intron_variant	Intron 2 of 3

Frequencies

GnomAD3 genomes Cov.: 31

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

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.0
DANN	Benign	0.76
PhyloP100		0.25

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs13357969; hg19: chr5-150751557;