13-40933528-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_172373.4(ELF1):c.1757A>G(p.Glu586Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000204 in 1,614,136 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_172373.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ELF1 | NM_172373.4 | c.1757A>G | p.Glu586Gly | missense_variant | 9/9 | ENST00000239882.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ELF1 | ENST00000239882.7 | c.1757A>G | p.Glu586Gly | missense_variant | 9/9 | 1 | NM_172373.4 | P1 | |
ELF1 | ENST00000635415.1 | c.1757A>G | p.Glu586Gly | missense_variant | 9/9 | 5 | |||
ELF1 | ENST00000625359.1 | c.1685A>G | p.Glu562Gly | missense_variant | 8/8 | 2 | |||
ELF1 | ENST00000498824.4 | c.*1500A>G | 3_prime_UTR_variant, NMD_transcript_variant | 9/9 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000118 AC: 18AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251492Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135918
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461894Hom.: 1 Cov.: 30 AF XY: 0.00000825 AC XY: 6AN XY: 727248
GnomAD4 genome ? AF: 0.000118 AC: 18AN: 152242Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 27, 2023 | The c.1757A>G (p.E586G) alteration is located in exon 9 (coding exon 8) of the ELF1 gene. This alteration results from a A to G substitution at nucleotide position 1757, causing the glutamic acid (E) at amino acid position 586 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at