rs12568083

Variant names:

• chr1-154483473-T-A
• rs12568083
• NM_001010846.3:c.*676A>T

Your query was ambiguous. Multiple possible variants found:

• chr1-154483473-T-A
• chr1-154483473-T-C

Variant summary

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

The NM_001010846.3(SHE):​c.*676A>T variant causes a 3 prime UTR 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: SHE NM_001010846.3 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.533
• Publications: 11 publications found

Genes affected

SHE (HGNC:27004): (Src homology 2 domain containing E) Predicted to enable phosphotyrosine residue binding activity. [provided by Alliance of Genome Resources, Apr 2022]

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=-0.89).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SHE	NM_001010846.3	c.*676A>T		3_prime_UTR_variant	Exon 6 of 6	ENST00000304760.3	NP_001010846.1
SHE	NR_135169.2	n.2545A>T		non_coding_transcript_exon_variant	Exon 6 of 6
SHE	XM_011509163.4	c.*260+416A>T		intron_variant	Intron 6 of 6		XP_011507465.1
SHE	XM_005244891.6	c.1301+2470A>T		intron_variant	Intron 5 of 5		XP_005244948.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SHE	ENST00000304760.3	c.*676A>T		3_prime_UTR_variant	Exon 6 of 6	1	NM_001010846.3	ENSP00000307369.2
SHE	ENST00000555188.5	c.*2466A>T		3_prime_UTR_variant	Exon 3 of 3	1		ENSP00000451961.1
SHE	ENST00000486773.1	c.101+2470A>T		intron_variant	Intron 1 of 1	3		ENSP00000452008.1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 36

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.60
DANN	Benign	0.50
PhyloP100		-0.53

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: rs12568083; hg19: chr1-154455949;