rs2072797
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_015374.3(SUN2):c.2011G>A(p.Gly671Ser) variant causes a missense change. The variant allele was found at a frequency of 0.11 in 1,613,644 control chromosomes in the GnomAD database, including 10,681 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Synonymous variant affecting the same amino acid position (i.e. G671G) has been classified as Uncertain significance.
Frequency
Consequence
NM_015374.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SUN2 | NM_015374.3 | c.2011G>A | p.Gly671Ser | missense_variant | 17/18 | ENST00000689035.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SUN2 | ENST00000689035.1 | c.2011G>A | p.Gly671Ser | missense_variant | 17/18 | NM_015374.3 | P2 | ||
ENST00000418803.1 | n.86-225C>T | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000420118.1 | n.318-420C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0900 AC: 13689AN: 152030Hom.: 834 Cov.: 32
GnomAD3 exomes AF: 0.109 AC: 27287AN: 251384Hom.: 1786 AF XY: 0.112 AC XY: 15265AN XY: 135888
GnomAD4 exome AF: 0.112 AC: 164218AN: 1461496Hom.: 9850 Cov.: 32 AF XY: 0.113 AC XY: 81885AN XY: 727066
GnomAD4 genome ? AF: 0.0899 AC: 13680AN: 152148Hom.: 831 Cov.: 32 AF XY: 0.0925 AC XY: 6881AN XY: 74378
ClinVar
Submissions by phenotype
Emery-Dreifuss muscular dystrophy Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 04, 2021 | This variant is associated with the following publications: (PMID: 17827388) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at