chr7-127651487-T-TA

Variant names:

• chr7-127651487-T-TA
• rs2308067
• ENST00000691038.3:n.581_582insT

Variant summary

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

The ENST00000691038.3(SND1-DT):​n.581_582insT variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: SND1-DT ENST00000691038.3 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.429
• Publications: 0 publications found

Genes affected

SND1-DT (HGNC:55639): (SND1 divergent transcript)

ACMG classification

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SND1-DT	NR_186577.1	n.160+185_160+186insT		intron_variant	Intron 1 of 1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SND1-DT	ENST00000691038.3	n.581_582insT		non_coding_transcript_exon_variant	Exon 1 of 1
SND1-DT	ENST00000836785.1	n.410_411insT		non_coding_transcript_exon_variant	Exon 1 of 2
SND1-DT	ENST00000490314.1	n.340+185_340+186insT		intron_variant	Intron 1 of 2	4

Frequencies

GnomAD3 genomes Cov.: 0

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

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.43

Splicing

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

Other links and lift over

dbSNP: rs2308067; hg19: chr7-127291541;