rs751992446
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_015052.5(HECW1):c.41A>G(p.Asn14Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000347 in 1,613,832 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015052.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152240Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000283 AC: 7AN: 247686 AF XY: 0.0000297 show subpopulations
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461592Hom.: 0 Cov.: 31 AF XY: 0.0000371 AC XY: 27AN XY: 727082 show subpopulations
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74372 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.41A>G (p.N14S) alteration is located in exon 4 (coding exon 2) of the HECW1 gene. This alteration results from a A to G substitution at nucleotide position 41, causing the asparagine (N) at amino acid position 14 to be replaced by a serine (S). 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