chr4-71755148-C-CTATTTATTTATTTATT

Position:

• chr4-71755148-C-CTATTTATTTATTTATT

Variant summary

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

The ENST00000273951.13(GC):​c.1035-42_1035-41insAATAAATAAATAAATA 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 0.11 (942 hom., cov: 0)
  • Exomes 𝑓: 0.059 (1162 hom.)
  • Failed GnomAD Quality Control
• Consequence: GC ENST00000273951.13 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.440

Genes affected

GC (HGNC:4187): (GC vitamin D binding protein) The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
GC	NM_000583.4	c.1035-42_1035-41insAATAAATAAATAAATA		intron_variant		ENST00000273951.13	NP_000574.2
GC	NM_001204306.1	c.1035-42_1035-41insAATAAATAAATAAATA		intron_variant			NP_001191235.1
GC	NM_001204307.1	c.1092-42_1092-41insAATAAATAAATAAATA		intron_variant			NP_001191236.1
GC	XM_006714177.3	c.1035-42_1035-41insAATAAATAAATAAATA		intron_variant			XP_006714240.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
GC	ENST00000273951.13	c.1035-42_1035-41insAATAAATAAATAAATA		intron_variant		1	NM_000583.4	ENSP00000273951	P1

Frequencies

GnomAD3 genomes AF: 0.00 AC: 15512 AN: 145004 Hom.: 942 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.116

Gnomad AMI AF: 0.0638

Gnomad AMR AF: 0.100

Gnomad ASJ AF: 0.0542

Gnomad EAS AF: 0.0436

Gnomad SAS AF: 0.0615

Gnomad FIN AF: 0.0380

Gnomad MID AF: 0.148

Gnomad NFE AF: 0.123

Gnomad OTH AF: 0.115

GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0590 AC: 16725 AN: 283692 Hom.: 1162 Cov.: 9 AF XY: 0.0609 AC XY: 9597 AN XY: 157458

Gnomad4 AFR exome AF: 0.0526

Gnomad4 AMR exome AF: 0.0332

Gnomad4 ASJ exome AF: 0.0393

Gnomad4 EAS exome AF: 0.0196

Gnomad4 SAS exome AF: 0.0401

Gnomad4 FIN exome AF: 0.0392

Gnomad4 NFE exome AF: 0.0670

Gnomad4 OTH exome AF: 0.0605

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.107 AC: 15511 AN: 145092 Hom.: 942 Cov.: 0 AF XY: 0.101 AC XY: 7100 AN XY: 70238

Gnomad4 AFR AF: 0.116

Gnomad4 AMR AF: 0.100

Gnomad4 ASJ AF: 0.0542

Gnomad4 EAS AF: 0.0435

Gnomad4 SAS AF: 0.0607

Gnomad4 FIN AF: 0.0380

Gnomad4 NFE AF: 0.123

Gnomad4 OTH AF: 0.115

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: rs58603194; hg19: chr4-72620865;