chr8-60678791-A-GGCGGCGGCGGCGGCGGCGGCG

Position:

• chr8-60678791-A-GGCGGCGGCGGCGGCGGCGGCG

Variant summary

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

The NM_017780.4(CHD7):​c.-466delinsGGCGGCGGCGGCGGCGGCGGCG variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).

• Frequency: Genomes: not found (cov: 0)
• Consequence: CHD7 NM_017780.4 5_prime_UTR
• Clinical Significance: Uncertain significance criteria provided, single submitter U:2
• Conservation: PhyloP100: 0.706

Genes affected

CHD7 (HGNC:20626): (chromodomain helicase DNA binding protein 7) This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CHD7	NM_017780.4	c.-466delinsGGCGGCGGCGGCGGCGGCGGCG		5_prime_UTR_variant	1/38	ENST00000423902.7	NP_060250.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CHD7	ENST00000423902.7	c.-466delinsGGCGGCGGCGGCGGCGGCGGCG		5_prime_UTR_variant	1/38	5	NM_017780.4	ENSP00000392028	P1
CHD7	ENST00000695848.1	n.48delinsGGCGGCGGCGGCGGCGGCGGCG		non_coding_transcript_exon_variant	1/7
CHD7	ENST00000695849.1	n.48delinsGGCGGCGGCGGCGGCGGCGGCG		non_coding_transcript_exon_variant	1/7
CHD7	ENST00000695853.1	c.-466delinsGGCGGCGGCGGCGGCGGCGGCG		5_prime_UTR_variant, NMD_transcript_variant	1/37			ENSP00000512218

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 0

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:2

Revision: criteria provided, single submitter

Submissions by phenotype

CHARGE syndrome Uncertain:1

Uncertain significance, criteria provided, single submitter

clinical testing

Illumina Laboratory Services, Illumina

Jun 14, 2016

- -

Hypogonadism with anosmia Uncertain:1

Uncertain significance, criteria provided, single submitter

clinical testing

Illumina Laboratory Services, Illumina

Jun 14, 2016

- -

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: rs886063026; hg19: chr8-61591350;