7-88220357-CTTTT-CTTTTT

Variant names:

• chr7-88220357-C-CT
• rs60686940
• NM_198901.2:c.7-1416dupA

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_198901.2(SRI):​c.7-1416dupA variant causes a intron 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: 𝑓 0.00032 (1 hom., cov: 0)
• Consequence: SRI NM_198901.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.660

Genes affected

SRI (HGNC:11292): (sorcin) This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]

ENSG00000228113 (HGNC:):

SRI-AS1 (HGNC:40564): (SRI antisense RNA 1)

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SRI	NM_198901.2	c.7-1416dupA		intron_variant	Intron 1 of 7		NP_944490.1
SRI	NM_001256892.2	c.7-1416dupA		intron_variant	Intron 1 of 6		NP_001243821.1
SRI-AS1	NR_120517.1	n.574+1148dupT		intron_variant	Intron 2 of 2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SRI	ENST00000394641.7	c.7-1416_7-1415insA		intron_variant	Intron 1 of 7	2		ENSP00000378137.3
SRI	ENST00000431660.5	c.7-1416_7-1415insA		intron_variant	Intron 1 of 6	2		ENSP00000391148.1
SRI	ENST00000490437.5	c.7-3167_7-3166insA		intron_variant	Intron 1 of 6	2		ENSP00000418512.1

Frequencies

GnomAD3 genomes AF: 0.000319 AC: 47 AN: 147344 Hom.: 1 Cov.: 0

Gnomad AFR AF: 0.0000249

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000338

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00444

Gnomad SAS AF: 0.00236

Gnomad FIN AF: 0.000219

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000896

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.000319 AC: 47 AN: 147398 Hom.: 1 Cov.: 0 AF XY: 0.000363 AC XY: 26 AN XY: 71544

Gnomad4 AFR AF: 0.0000249

Gnomad4 AMR AF: 0.000337

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00445

Gnomad4 SAS AF: 0.00237

Gnomad4 FIN AF: 0.000219

Gnomad4 NFE AF: 0.0000896

Gnomad4 OTH AF: 0.00

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

Publications

LitVar

Other links and lift over

dbSNP: rs60686940; hg19: chr7-87849672;