1-231364607-A-ATTTTTTTT

Variant names:

• chr1-231364607-A-ATTTTTTTT
• rs541569859
• NM_022051.3:c.*1803_*1804insAAAAAAAA

Variant summary

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

The NM_022051.3(EGLN1):​c.*1803_*1804insAAAAAAAA variant causes a 3 prime UTR 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: EGLN1 NM_022051.3 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.160

Genes affected

EGLN1 (HGNC:1232): (egl-9 family hypoxia inducible factor 1) The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]

ENSG00000287856 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
EGLN1	NM_022051.3	c.*1803_*1804insAAAAAAAA		3_prime_UTR_variant	Exon 5 of 5	ENST00000366641.4	NP_071334.1
EGLN1	NM_001377260.1	c.*1864_*1865insAAAAAAAA		3_prime_UTR_variant	Exon 4 of 4		NP_001364189.1
EGLN1	NM_001377261.1	c.*1909_*1910insAAAAAAAA		3_prime_UTR_variant	Exon 4 of 4		NP_001364190.1
LOC107985360	XR_001738520.3	n.4098+3227_4098+3228insTTTTTTTT		intron_variant	Intron 1 of 1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
EGLN1	ENST00000366641	c.*1803_*1804insAAAAAAAA		3_prime_UTR_variant	Exon 5 of 5	1	NM_022051.3	ENSP00000355601.3
EGLN1	ENST00000667629	c.*1909_*1910insAAAAAAAA		3_prime_UTR_variant	Exon 4 of 4			ENSP00000499629.1
ENSG00000287856	ENST00000653908	c.*1909_*1910insAAAAAAAA		3_prime_UTR_variant	Exon 5 of 5			ENSP00000499669.1
ENSG00000287856	ENST00000653198.1	n.2626_2627insAAAAAAAA		non_coding_transcript_exon_variant	Exon 8 of 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

LitVar

Other links and lift over

dbSNP: rs541569859; hg19: chr1-231500353;