17-75630842-G-GTT

Position:

• chr17-75630842-G-GTT

Variant summary

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

The NM_004259.7(RECQL5):​c.1586-6_1586-5insAA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000261 in 1,147,246 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: 21)
  • Exomes 𝑓: 0.0000026 (0 hom.)
• Consequence: RECQL5 NM_004259.7 splice_region, intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.258

Genes affected

RECQL5 (HGNC:9950): (RecQ like helicase 5) The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

RECQL5 (HGNC:):

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/exons	MANE	Protein	UniProt
RECQL5	NM_004259.7	c.1586-6_1586-5insAA		splice_region_variant, intron_variant		ENST00000317905.10	NP_004250.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
RECQL5	ENST00000317905.10	c.1586-6_1586-5insAA		splice_region_variant, intron_variant		1	NM_004259.7	ENSP00000317636.5
RECQL5	ENST00000423245.6	c.1505-6_1505-5insAA		splice_region_variant, intron_variant		1		ENSP00000394820.2
RECQL5	ENST00000443199.6	n.1122-6_1122-5insAA		splice_region_variant, intron_variant		1
RECQL5	ENST00000580707.1	c.53-6_53-5insAA		splice_region_variant, intron_variant		3		ENSP00000463701.1

Frequencies

GnomAD3 genomes Cov.: 21

GnomAD4 exome AF: 0.00000261 AC: 3 AN: 1147246 Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0 AN XY: 561690

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: 0.0000343

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00000110

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome Cov.: 21

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: chr17-73626922;