chr8-30679706-C-CTT

Variant names:

• chr8-30679706-C-CTT
• rs10715710
• NM_000637.5:c.1420-39_1420-38dupAA

Variant summary

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

The NM_000637.5(GSR):​c.1420-39_1420-38dupAA 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 0.0000074 (0 hom., cov: 0)
  • Exomes 𝑓: 0.00030 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: GSR NM_000637.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.33

Genes affected

GSR (HGNC:4623): (glutathione-disulfide reductase) This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
GSR	NM_000637.5	c.1420-39_1420-38dupAA		intron_variant	Intron 12 of 12	ENST00000221130.11	NP_000628.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
GSR	ENST00000221130.11	c.1420-38_1420-37insAA		intron_variant	Intron 12 of 12	1	NM_000637.5	ENSP00000221130.5

Frequencies

GnomAD3 genomes AF: 0.00000741 AC: 1 AN: 134862 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000160

Gnomad OTH AF: 0.00

GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000300 AC: 351 AN: 1170262 Hom.: 0 Cov.: 0 AF XY: 0.000300 AC XY: 176 AN XY: 587378

Gnomad4 AFR exome AF: 0.000777

Gnomad4 AMR exome AF: 0.000355

Gnomad4 ASJ exome AF: 0.0000910

Gnomad4 EAS exome AF: 0.000154

Gnomad4 SAS exome AF: 0.000200

Gnomad4 FIN exome AF: 0.000130

Gnomad4 NFE exome AF: 0.000316

Gnomad4 OTH exome AF: 0.000184

GnomAD4 genome AF: 0.00000741 AC: 1 AN: 134862 Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0 AN XY: 64914

Gnomad4 AFR AF: 0.00

Gnomad4 AMR AF: 0.00

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.0000160

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: rs10715710; hg19: chr8-30537223;