rs10715710

Variant names:

• chr8-30679706-CTTTTTT-C
• NM_000637.5:c.1420-43_1420-38delAAAAAA

Your query was ambiguous. Multiple possible variants found:

• chr8-30679706-CTTTTTT-C
• chr8-30679706-CTTTTTT-CT
• chr8-30679706-CTTTTTT-CTT
• chr8-30679706-CTTTTTT-CTTT
• chr8-30679706-CTTTTTT-CTTTT
• chr8-30679706-CTTTTTT-CTTTTT
• chr8-30679706-CTTTTTT-CTTTTTTT
• chr8-30679706-CTTTTTT-CTTTTTTTT
• chr8-30679706-CTTTTTT-CTTTTTTTTTTTTTT

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_000637.5(GSR):​c.1420-43_1420-38delAAAAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000427 in 1,171,258 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 0)
  • Exomes 𝑓: 0.0000043 (0 hom.)
• Consequence: GSR NM_000637.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.49

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 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
GSR	NM_000637.5	c.1420-43_1420-38delAAAAAA		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.1420-43_1420-38delAAAAAA		intron_variant	Intron 12 of 12	1	NM_000637.5	ENSP00000221130.5

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome AF: 0.00000427 AC: 5 AN: 1171258 Hom.: 0 AF XY: 0.00000851 AC XY: 5 AN XY: 587854

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00000449

Gnomad4 OTH exome AF: 0.0000204

GnomAD4 genome Cov.: 0

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

No publications associated with this variant yet.

Other links and lift over

hg19: chr8-30537223;