chr11-7039128-A-AAGGAATTGAGTGAT

Variant names:

• chr11-7039128-A-AAGGAATTGAGTGAT
• rs60100976
• NM_176822.4:c.289+262_289+275dupAGTGATAGGAATTG

Variant summary

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

The NM_176822.4(NLRP14):​c.289+262_289+275dupAGTGATAGGAATTG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 27)
• Consequence: NLRP14 NM_176822.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.80

Genes affected

NLRP14 (HGNC:22939): (NLR family pyrin domain containing 14) The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]

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 rank	MANE	Protein	UniProt
NLRP14	NM_176822.4	c.289+262_289+275dupAGTGATAGGAATTG		intron_variant	Intron 2 of 11	ENST00000299481.5	NP_789792.1
NLRP14	XM_011520044.2	c.289+262_289+275dupAGTGATAGGAATTG		intron_variant	Intron 2 of 10		XP_011518346.1
NLRP14	XM_047426867.1	c.289+262_289+275dupAGTGATAGGAATTG		intron_variant	Intron 2 of 10		XP_047282823.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
NLRP14	ENST00000299481.5	c.289+253_289+254insAGGAATTGAGTGAT		intron_variant	Intron 2 of 11	5	NM_176822.4	ENSP00000299481.5

Frequencies

GnomAD3 genomes Cov.: 27

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 27

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: rs60100976; hg19: chr11-7060359;