chr1-51840391-A-ATCT

Variant names:

• chr1-51840391-A-ATCT
• NM_001101662.2:c.462_464dupAGA

Variant summary

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

The NM_001101662.2(NRDC):​c.462_464dupAGA​(p.Glu154dup) variant causes a disruptive inframe insertion 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: NRDC NM_001101662.2 disruptive_inframe_insertion
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.55

Genes affected

NRDC (HGNC:7995): (nardilysin convertase) This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
NRDC	NM_001101662.2	c.462_464dupAGA	p.Glu154dup	disruptive_inframe_insertion	Exon 2 of 31	ENST00000352171.12	NP_001095132.1
NRDC	NM_002525.3	c.462_464dupAGA	p.Glu154dup	disruptive_inframe_insertion	Exon 2 of 33		NP_002516.2
NRDC	NM_001242361.2	c.66_68dupAGA	p.Glu22dup	disruptive_inframe_insertion	Exon 2 of 33		NP_001229290.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
NRDC	ENST00000352171.12	c.462_464dupAGA	p.Glu154dup	disruptive_inframe_insertion	Exon 2 of 31	1	NM_001101662.2	ENSP00000262679.8

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome Cov.: 0

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

No publications associated with this variant yet.

Other links and lift over

hg19: chr1-52306063;