19-918407-GGGGA-GGGGAGGGA

Variant names:

• chr19-918407-G-GGGGA
• rs145349054
• NM_032551.5:c.245-133_245-130dupAGGG

Variant summary

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

The NM_032551.5(KISS1R):​c.245-133_245-130dupAGGG 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: not found (cov: 0)
• Consequence: KISS1R NM_032551.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.498

Genes affected

KISS1R (HGNC:4510): (KISS1 receptor) The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
KISS1R	NM_032551.5	c.245-133_245-130dupAGGG		intron_variant	Intron 1 of 4	ENST00000234371.10	NP_115940.2
KISS1R	XM_047439545.1	c.245-133_245-130dupAGGG		intron_variant	Intron 1 of 3		XP_047295501.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
KISS1R	ENST00000234371.10	c.245-137_245-136insGGGA		intron_variant	Intron 1 of 4	1	NM_032551.5	ENSP00000234371.3
KISS1R	ENST00000606939.2	c.245-137_245-136insGGGA		intron_variant	Intron 1 of 3	5		ENSP00000475639.1
KISS1R	ENST00000592648.1	c.244+661_244+662insGGGA		intron_variant	Intron 1 of 1	5		ENSP00000467666.1

Frequencies

GnomAD3 genomes Cov.: 0

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

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

LitVar

Other links and lift over

dbSNP: rs145349054; hg19: chr19-918407;