NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 5, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000485240.1

Allele description [Variation Report for NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer)]

NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer)

Gene:

SNX14:sorting nexin 14 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q14.3

Genomic location:

Preferred name:

NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer)

Other names:

NM_153816.6(SNX14):c.2764_2770del; p.Leu921_Asp922insTer

HGVS:

NC_000006.12:g.85507269_85507275del
NG_047171.1:g.91886_91892del
NM_001297614.3:c.2737_2743del
NM_001304479.2:c.2608_2614del
NM_001350532.2:c.2827_2833del
NM_001350533.2:c.2761_2767del
NM_001350534.2:c.2734_2740del
NM_001350535.2:c.2743-15_2743-9del
NM_001350536.2:c.2632_2638del
NM_001350537.2:c.2629_2635del
NM_001350538.2:c.2620_2626del
NM_001350539.2:c.2605_2611del
NM_001350540.2:c.2599_2605del
NM_001350541.2:c.2572_2578del
NM_001350542.2:c.2476_2482del
NM_001350543.2:c.2473_2479del
NM_001350544.2:c.2464_2470del
NM_001350545.2:c.2320_2326del
NM_001350546.2:c.2320_2326del
NM_001350547.2:c.1714_1720del
NM_001350548.2:c.1609_1615del
NM_001350549.2:c.1609_1615del
NM_001350550.2:c.1609_1615del
NM_001350551.2:c.1609_1615del
NM_001350552.2:c.1609_1615del
NM_001350553.2:c.1582_1588del
NM_020468.6:c.2605_2611del
NM_153816.6:c.2764_2770delMANE SELECT
NP_001284543.1:p.Leu912_Asp913insTer
NP_001291408.1:p.Leu869_Asp870insTer
NP_001337461.1:p.Leu942_Asp943insTer
NP_001337462.1:p.Leu920_Asp921insTer
NP_001337463.1:p.Leu911_Asp912insTer
NP_001337465.1:p.Leu877_Asp878insTer
NP_001337466.1:p.Leu876_Asp877insTer
NP_001337467.1:p.Leu873_Asp874insTer
NP_001337468.1:p.Leu868_Asp869insTer
NP_001337469.1:p.Leu866_Asp867insTer
NP_001337470.1:p.Leu857_Asp858insTer
NP_001337471.1:p.Leu825_Asp826insTer
NP_001337472.1:p.Leu824_Asp825insTer
NP_001337473.1:p.Leu821_Asp822insTer
NP_001337474.1:p.Leu773_Asp774insTer
NP_001337475.1:p.Leu773_Asp774insTer
NP_001337476.1:p.Leu571_Asp572insTer
NP_001337477.1:p.Leu536_Asp537insTer
NP_001337478.1:p.Leu536_Asp537insTer
NP_001337479.1:p.Leu536_Asp537insTer
NP_001337480.1:p.Leu536_Asp537insTer
NP_001337481.1:p.Leu536_Asp537insTer
NP_001337482.1:p.Leu527_Asp528insTer
NP_065201.1:p.Leu868_Asp869insTer
NP_722523.1:p.Leu921_Asp922insTer
NC_000006.11:g.86216987_86216993del
NM_153816.5:c.2764_2770delGACATTG
NR_146774.2:n.2900_2906del
NR_146775.2:n.2903_2909del
NR_146776.2:n.3026_3032del
NR_146777.2:n.3154_3160del
NR_146778.2:n.3158_3164del
NR_146779.2:n.3155_3161del

Links:

dbSNP: rs1064793681

NCBI 1000 Genomes Browser:

rs1064793681

Molecular consequence:

NM_001350535.2:c.2743-15_2743-9del - intron variant - [Sequence Ontology: SO:0001627]
NR_146774.2:n.2900_2906del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146775.2:n.2903_2909del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146776.2:n.3026_3032del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146777.2:n.3154_3160del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146778.2:n.3158_3164del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146779.2:n.3155_3161del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001297614.3:c.2737_2743del - nonsense - [Sequence Ontology: SO:0001587]
NM_001304479.2:c.2608_2614del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350532.2:c.2827_2833del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350533.2:c.2761_2767del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350534.2:c.2734_2740del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350536.2:c.2632_2638del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350537.2:c.2629_2635del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350538.2:c.2620_2626del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350539.2:c.2605_2611del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350540.2:c.2599_2605del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350541.2:c.2572_2578del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350542.2:c.2476_2482del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350543.2:c.2473_2479del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350544.2:c.2464_2470del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350545.2:c.2320_2326del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350546.2:c.2320_2326del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350547.2:c.1714_1720del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350548.2:c.1609_1615del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350549.2:c.1609_1615del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350550.2:c.1609_1615del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350551.2:c.1609_1615del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350552.2:c.1609_1615del - nonsense - [Sequence Ontology: SO:0001587]
NM_001350553.2:c.1582_1588del - nonsense - [Sequence Ontology: SO:0001587]
NM_020468.6:c.2605_2611del - nonsense - [Sequence Ontology: SO:0001587]
NM_153816.6:c.2764_2770del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000566774	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 5, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000566774

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 5, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000566774.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.2764_2770delGACATTG deletion in the SNX14 gene has been reported previously in thehomozygous state in association with SNX14-related disorder (Akizu et al., 2015). Thec.2764_2770delGACATTG variant changes codon Aspartic acid 922 to a premature Stop codon, denotedp.Asp922Ter. This deletion is predicted to cause loss of normal protein function through proteintruncation. The c.2764_2770delGACATTG deletion was not observed in approximately 6500 individualsof European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is nota common benign variant in these populations. We interpret c.2764_2770delGACATTG as a pathogenic variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine