rs1553354646

chr2-51699459-CAATGCCCCACTTAATGCAGGTTGAGAAATAAGTGAAACTATGACATGGAAAAATATTACAATAAGCGAAAAATATTACAATAAAGGAAAAAATAATGGAAGAATATCAGTATTTGATGCTATTATACGTGACCATATTGTTTAGCAAACTACTTCAAAAATGAAATTAGGAATTTCAGAGAATCATTTTATTCTCATATCAGAATGCTTGGAAAAGTGAGGGCTAAATGTATTTGTTATTTGACTGTGTACATTATGCCCATGGAATAGCATTTTGGAAGACCCAACATTAAGCTAGCTTTACATA-C

Variant summary

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

The NR_135237.1(LOC730100):n.754-62628_754-62323del variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as not provided (no stars).

• Frequency: Genomes: not found (cov: 30)
• Consequence: LOC730100 NR_135237.1 intron, non_coding_transcript
• Clinical Significance: not provided no classification provided O:4
• Conservation: PhyloP100: 0.731

Genes affected

(HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LOC730100	NR_135237.1	n.754-62628_754-62323del		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
	ENST00000440698.1	n.754-62628_754-62323del		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes Cov.: 30

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

GnomAD4 genome Cov.: 30

ClinVar

Significance: not provided

Submissions summary: Other:4

Revision: no classification provided

Submissions by phenotype

Large for gestational age Other:1

not provided, no classification provided

case-control

Institute of Molecular and Cell Biology, University of Tartu

-

- -

Gestational diabetes mellitus uncontrolled Other:1

not provided, no classification provided

case-control

Institute of Molecular and Cell Biology, University of Tartu

-

- -

Normal pregnancy Other:1

not provided, no classification provided

case-control

Institute of Molecular and Cell Biology, University of Tartu

-

- -

Preeclampsia Other:1

not provided, no classification provided

case-control

Institute of Molecular and Cell Biology, University of Tartu

-

- -

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: rs1553354646; hg19: chr2-51926597;