4-71755148-C-CTATTTATTTATTTATTTATTTATTTATTTATT

Position:

• chr4-71755148-C-CTATTTATTTATTTATTTATTTATTTATTTATT

Variant summary

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

The ENST00000273951.13(GC):​c.1035-42_1035-41insAATAAATAAATAAATAAATAAATAAATAAATA 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: not found (cov: 0)
• 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_1035-41insAATAAATAAATAAATAAATAAATAAATAAATA		intron_variant		ENST00000273951.13	NP_000574.2
GC	NM_001204306.1	c.1035-42_1035-41insAATAAATAAATAAATAAATAAATAAATAAATA		intron_variant			NP_001191235.1
GC	NM_001204307.1	c.1092-42_1092-41insAATAAATAAATAAATAAATAAATAAATAAATA		intron_variant			NP_001191236.1
GC	XM_006714177.3	c.1035-42_1035-41insAATAAATAAATAAATAAATAAATAAATAAATA		intron_variant			XP_006714240.1

Ensembl

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

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome Cov.: 9

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

LitVar

Other links and lift over

dbSNP: rs58603194; hg19: chr4-72620865;