rs397997391

Positions:

• chr5-37036347-G-GTATATATATATATA
• chr5-37036347-G-GTATATA
• chr5-37036347-G-GTATATATATATA
• chr5-37036347-GTATATATATATA-G
• chr5-37036347-GTATATA-G
• chr5-37036347-G-GTATATATA
• chr5-37036347-GTATATATATA-G
• chr5-37036347-GTA-G
• chr5-37036347-G-GTATATATATATATATATATATATATGTATA
• chr5-37036347-G-GTA
• chr5-37036347-GTATATATA-G
• chr5-37036347-GTATA-G
• chr5-37036347-G-GTATATATATA
• chr5-37036347-G-GTATA

Variant summary

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

The NM_133433.4(NIPBL):​c.5863-24_5863-11dup 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 0.000022 (0 hom., cov: 0)
  • Exomes 𝑓: 0.0000080 (0 hom.)
• Consequence: NIPBL NM_133433.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0120

Genes affected

NIPBL (HGNC:28862): (NIPBL cohesin loading factor) This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
NIPBL	NM_133433.4	c.5863-24_5863-11dup		intron_variant		ENST00000282516.13

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
NIPBL	ENST00000282516.13	c.5863-24_5863-11dup		intron_variant		1	NM_133433.4	P1
NIPBL	ENST00000448238.2	c.5863-24_5863-11dup		intron_variant		1
NIPBL	ENST00000652901.1	c.5863-24_5863-11dup		intron_variant

Frequencies

GnomAD3 genomes AF: 0.0000221 AC: 3 AN: 136030 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.0000272

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0000750

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000157

Gnomad OTH AF: 0.00

GnomAD4 exome AF: 0.00000805 AC: 2 AN: 248482 Hom.: 0 Cov.: 0 AF XY: 0.00000737 AC XY: 1 AN XY: 135724

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.000192

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.0000973

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome AF: 0.0000221 AC: 3 AN: 136030 Hom.: 0 Cov.: 0 AF XY: 0.0000460 AC XY: 3 AN XY: 65264

Gnomad4 AFR AF: 0.0000272

Gnomad4 AMR AF: 0.0000750

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.0000157

Gnomad4 OTH AF: 0.00

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: rs10554564; hg19: chr5-37036449;