rs200316912

Variant names:

• chr2-44707341-C-T
• rs200316912
• NM_024766.5:c.493-58C>T

Variant summary

Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_Moderate BS2

The NM_024766.5(CAMKMT):​c.493-58C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00244 in 1,501,870 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.0020 (0 hom., cov: 31)
  • Exomes 𝑓: 0.0025 (14 hom.)
• Consequence: CAMKMT NM_024766.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.17
• Publications: 0 publications found

Genes affected

CAMKMT (HGNC:26276): (calmodulin-lysine N-methyltransferase) This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012]

ACMG classification

Our verdict: Likely_benign. The variant received -6 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.45).
• BS2: High Homozygotes in GnomAdExome4 at 14 AR gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CAMKMT	NM_024766.5	c.493-58C>T		intron_variant	Intron 5 of 10	ENST00000378494.8	NP_079042.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CAMKMT	ENST00000378494.8	c.493-58C>T		intron_variant	Intron 5 of 10	1	NM_024766.5	ENSP00000367755.3
CAMKMT	ENST00000477830.1	n.299-58C>T		intron_variant	Intron 3 of 6	4

Frequencies

GnomAD3 genomes AF: 0.00201 AC: 305 AN: 151890 Hom.: 0 Cov.: 31

Gnomad AFR AF: 0.000387

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00112

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00104

Gnomad FIN AF: 0.0114

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00210

Gnomad OTH AF: 0.00191

GnomAD4 exome AF: 0.00249 AC: 3367 AN: 1349874 Hom.: 14 AF XY: 0.00249 AC XY: 1685 AN XY: 677156

African (AFR) AF: 0.000258 AC: 8 AN: 30970

American (AMR) AF: 0.000501 AC: 22 AN: 43938

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 25234

East Asian (EAS) AF: 0.00 AC: 0 AN: 38890

South Asian (SAS) AF: 0.00207 AC: 171 AN: 82508

European-Finnish (FIN) AF: 0.0106 AC: 561 AN: 52960

Middle Eastern (MID) AF: 0.000181 AC: 1 AN: 5528

European-Non Finnish (NFE) AF: 0.00245 AC: 2486 AN: 1013404

Other (OTH) AF: 0.00209 AC: 118 AN: 56442

GnomAD4 genome AF: 0.00201 AC: 305 AN: 151996 Hom.: 0 Cov.: 31 AF XY: 0.00233 AC XY: 173 AN XY: 74262

African (AFR) AF: 0.000386 AC: 16 AN: 41504

American (AMR) AF: 0.00111 AC: 17 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3470

East Asian (EAS) AF: 0.00 AC: 0 AN: 5176

South Asian (SAS) AF: 0.00104 AC: 5 AN: 4810

European-Finnish (FIN) AF: 0.0114 AC: 120 AN: 10492

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 290

European-Non Finnish (NFE) AF: 0.00210 AC: 143 AN: 67984

Other (OTH) AF: 0.00190 AC: 4 AN: 2108

Alfa AF: 0.00185 Hom.: 0

Bravo AF: 0.00133

Asia WGS AF: 0.000577 AC: 2 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.45
CADD	Benign	16
DANN	Benign	0.77
PhyloP100		3.2
Mutation Taster		=99/1	polymorphism

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.020		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs200316912; hg19: chr2-44934480;