rs3860876

Variant names:

• chr8-7860744-A-C
• rs3860876
• NM_001395484.1:c.313A>C

Your query was ambiguous. Multiple possible variants found:

• chr8-7860744-A-C
• chr8-7860744-A-G
• chr8-7860744-A-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP4_Moderate

The NM_001395484.1(SPAG11A):​c.313A>C​(p.Ser105Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 11/15 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 19)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: SPAG11A NM_001395484.1 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.48
• Publications: 6 publications found

Genes affected

SPAG11A (HGNC:33342): (sperm associated antigen 11A) Involved in antimicrobial humoral immune response mediated by antimicrobial peptide and cytolysis by host of symbiont cells. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]

LOC124901865 (HGNC:):

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• BP4: Computational evidence support a benign effect (MetaRNN=0.11958158).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SPAG11A	NM_001395484.1	c.313A>C	p.Ser105Arg	missense_variant	Exon 3 of 3	ENST00000642566.2	NP_001382413.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SPAG11A	ENST00000642566.2	c.313A>C	p.Ser105Arg	missense_variant	Exon 3 of 3		NM_001395484.1	ENSP00000496500.1

Frequencies

GnomAD3 genomes Cov.: 19

GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0 AN: 1271192 Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0 AN XY: 629410

African (AFR) AF: 0.00 AC: 0 AN: 31194

American (AMR) AF: 0.00 AC: 0 AN: 37928

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 21558

East Asian (EAS) AF: 0.00 AC: 0 AN: 28626

South Asian (SAS) AF: 0.00 AC: 0 AN: 65560

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 46426

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5148

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 982290

Other (OTH) AF: 0.00 AC: 0 AN: 52462

GnomAD4 genome Cov.: 19

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_addAF	Benign	-0.27	T
BayesDel_noAF	Benign	-0.63
CADD	Benign	21
DANN	Uncertain	0.98
DEOGEN2	Benign	0.016	.;T
Eigen	Benign	-0.62
Eigen_PC	Benign	-0.56
FATHMM_MKL	Benign	0.24	N
LIST_S2	Benign	0.43	T;T
M_CAP	Benign	0.035	D
MetaRNN	Benign	0.12	T;T
MetaSVM	Benign	-1.0	T
PhyloP100		1.5
PROVEAN	Benign	-1.7	.;N
REVEL	Benign	0.038
Sift	Uncertain	0.0030	.;D
Sift4G	Uncertain	0.0040	.;D
Vest4		0.29
MutPred		0.47		.;Loss of phosphorylation at S52 (P = 0.0237);
MVP		0.072
ClinPred		0.18	T
GERP RS		2.3
Mutation Taster		=97/3	polymorphism

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs3860876; hg19: chr8-7718266;