ENST00000706202.1:n.1732+733G>T

Variant names:

• chr22-21028685-A-.
• ENST00000706202.1:n.1732+651T>.

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The ENST00000706202.1(ENSG00000291240):​n.1732+651T>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 N/A (N/A hom., cov:)
  • Exomes 𝑓: N/A (N/A hom.)
• Consequence: ENSG00000291240 ENST00000706202.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

ENSG00000291240 (HGNC:):

SLC7A4 (HGNC:11062): (solute carrier family 7 member 4) Predicted to enable amino acid transmembrane transporter activity. Predicted to be involved in amino acid transport. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SLC7A4	NM_004173.3	c.*370T>.		downstream_gene_variant		ENST00000382932.3	NP_004164.2
SLC7A4	XM_047441472.1	c.*370T>.		downstream_gene_variant			XP_047297428.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000291240	ENST00000706202.1	n.1732+651T>.		intron_variant	Intron 4 of 6			ENSP00000516280.1
SLC7A4	ENST00000382932.3	c.*370T>.		downstream_gene_variant		1	NM_004173.3	ENSP00000372390.2
SLC7A4	ENST00000403586.5	c.*370T>.		downstream_gene_variant		1		ENSP00000384278.1

Frequencies

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

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

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Other links and lift over

hg19: chr22-21382974;