NM_014361.4:c.578-7730T>C

Variant names:

• chr11-99908324-T-C
• rs10501930
• NM_014361.4:c.578-7730T>C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_014361.4(CNTN5):​c.578-7730T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.961 in 152,122 control chromosomes in the GnomAD database, including 70,380 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 0.96 (70380 hom., cov: 31)
• Consequence: CNTN5 NM_014361.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0580
• Publications: 2 publications found

Genes affected

CNTN5 (HGNC:2175): (contactin 5) The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.984 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_014361.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CNTN5	NM_014361.4	MANE Select	c.578-7730T>C		intron	N/A	NP_055176.1	O94779-1
	CNTN5	NM_001243270.2		c.578-7730T>C		intron	N/A	NP_001230199.1	O94779-1
	CNTN5	NM_175566.2		c.356-7730T>C		intron	N/A	NP_780775.1	O94779-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CNTN5	ENST00000524871.6	TSL:1 MANE Select	c.578-7730T>C		intron	N/A	ENSP00000435637.1	O94779-1
	CNTN5	ENST00000418526.6	TSL:1	c.356-7730T>C		intron	N/A	ENSP00000393229.2	O94779-2
	CNTN5	ENST00000527185.5	TSL:1	c.578-7730T>C		intron	N/A	ENSP00000433575.1	O94779-4

Frequencies

GnomAD3 genomes AF: 0.961 AC: 146069 AN: 152004 Hom.: 70353 Cov.: 31

Gnomad AFR AF: 0.942

Gnomad AMI AF: 0.997

Gnomad AMR AF: 0.892

Gnomad ASJ AF: 0.987

Gnomad EAS AF: 0.857

Gnomad SAS AF: 0.929

Gnomad FIN AF: 0.998

Gnomad MID AF: 0.965

Gnomad NFE AF: 0.990

Gnomad OTH AF: 0.956

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.961 AC: 146147 AN: 152122 Hom.: 70380 Cov.: 31 AF XY: 0.959 AC XY: 71302 AN XY: 74356

African (AFR) AF: 0.942 AC: 39111 AN: 41522

American (AMR) AF: 0.892 AC: 13587 AN: 15238

Ashkenazi Jewish (ASJ) AF: 0.987 AC: 3427 AN: 3472

East Asian (EAS) AF: 0.856 AC: 4426 AN: 5168

South Asian (SAS) AF: 0.929 AC: 4481 AN: 4822

European-Finnish (FIN) AF: 0.998 AC: 10599 AN: 10622

Middle Eastern (MID) AF: 0.966 AC: 284 AN: 294

European-Non Finnish (NFE) AF: 0.990 AC: 67309 AN: 67962

Other (OTH) AF: 0.955 AC: 2014 AN: 2110

Alfa AF: 0.977 Hom.: 77126

Bravo AF: 0.947

Asia WGS AF: 0.885 AC: 3075 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.3
DANN	Benign	0.29
PhyloP100		-0.058
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		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: rs10501930; hg19: chr11-99779056;